Chih Ping Chen

Summary

Publications

  1. ncbi Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 24:38-44. 2004
  2. doi Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosomes
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, ROC
    J Chin Med Assoc 76:53-6. 2013
  3. doi Pure partial monosomy 3p (3p25.3 → pter): prenatal diagnosis and array comparative genomic hybridization characterization
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:435-9. 2012
  4. ncbi Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Prenat Diagn 26:313-20. 2006
  5. doi Persistent cloaca presenting with a perineal cyst: Prenatal ultrasound and magnetic resonance imaging findings
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, ROC
    J Chin Med Assoc 75:190-3. 2012
  6. doi Prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Gene 531:496-501. 2013
  7. ncbi Bilateral calcified ovarian fibromas in a patient with Sotos syndrome
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Fertil Steril 77:1285-7. 2002
  8. ncbi Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 22:5-7. 2002
  9. ncbi Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Fertil Steril 89:1826.e5-7. 2008
  10. doi Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:320-6. 2010

Detail Information

Publications204 found, 100 shown here

  1. ncbi Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 24:38-44. 2004
    ..To present the clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4...
  2. doi Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosomes
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, ROC
    J Chin Med Assoc 76:53-6. 2013
    ..aCGH is useful not only in identifying the genomic imbalances at the breakpoints, but also in detecting unexpectedly complex rearrangements in other chromosomes...
  3. doi Pure partial monosomy 3p (3p25.3 → pter): prenatal diagnosis and array comparative genomic hybridization characterization
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:435-9. 2012
    ..3 → pter) by array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) on uncultured amniocytes...
  4. ncbi Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Prenat Diagn 26:313-20. 2006
    ..To present the prenatal findings and molecular cytogenetic analyses of partial trisomy 12q and partial monosomy 21q, and a review of the literature...
  5. doi Persistent cloaca presenting with a perineal cyst: Prenatal ultrasound and magnetic resonance imaging findings
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, ROC
    J Chin Med Assoc 75:190-3. 2012
    ..The perineal cyst had a very small single orifice. We suggest that cloacal anomalies be considered in any female fetus with hydrocolpos, distended bladder and colon, ascites, and a perineal cyst...
  6. doi Prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Gene 531:496-501. 2013
    ..The fetus postnatally manifested facial dysmorphisms and long slender fingers. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of FBN2, DTNA and CELF4 in this case. ..
  7. ncbi Bilateral calcified ovarian fibromas in a patient with Sotos syndrome
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Fertil Steril 77:1285-7. 2002
    ..To present a case of bilateral calcified ovarian fibromas in Sotos syndrome (cerebral gigantism)...
  8. ncbi Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 22:5-7. 2002
    ....
  9. ncbi Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Fertil Steril 89:1826.e5-7. 2008
    ..To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctation...
  10. doi Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:320-6. 2010
    ..3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation (DWM), abnormal skull development, microcephaly and multiple congenital anomalies...
  11. ncbi De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and molecular
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 52:401-6. 2013
    ..To present prenatal diagnosis of partial monosomy 5p (5p14.1 → pter) and partial monosomy 14q (14q32.31 → qter)...
  12. ncbi Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 53:79-85. 2014
    ..This study was aimed at prenatal diagnosis of mosaic tetrasomy 9p and reviewing the literature...
  13. ncbi Prenatal diagnosis and genetic counseling for mosaic trisomy 13
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:13-22. 2010
    ....
  14. doi Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Genomics 102:265-9. 2013
    ..We discuss the consequence of haploinsufficiency of DOCK8, KANK1, VLDLR and DMRT1 in this case. ..
  15. ncbi Prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 23:758-61. 2003
    ..To present the perinatal findings and molecular cytogenetic analysis of concomitant trisomy 18p (18p11.2-->pter) and distal 21q22.3 deletion...
  16. doi Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:182-7. 2011
    ..To present prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3)...
  17. doi Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:603-11. 2012
    ..This study aims at presenting prenatal diagnosis of mosaic trisomy 2 and reviewing the literature...
  18. doi Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 52:551-7. 2013
    ..This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract...
  19. ncbi Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 23:504-8. 2003
    ..To present the perinatal findings and molecular cytogenetic analysis of a case with concomitant trisomy 16q and 22q13.3 deletion of paternal origin...
  20. doi Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:77-82. 2012
    ..To present prenatal diagnosis of true trisomy 7 mosaicism...
  21. doi Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:327-32. 2010
    ..To present the perinatal findings and molecular cytogenetic analysis of a rare chromosomal abnormality involving structural and numerical abnormalities of chromosome 18...
  22. ncbi Perinatal imaging findings of inherited Sotos syndrome
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 22:887-92. 2002
    ..In familial cases, the most likely mode of inheritance is autosomal dominant with variable expressivity. We present the perinatal imaging findings of an inherited case...
  23. doi Syndromes, disorders and maternal risk factors associated with neural tube defects (I)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 47:1-9. 2008
    ..Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling...
  24. doi Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured am
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:405-10. 2012
    ....
  25. doi Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Gene 529:163-8. 2013
    ..Prenatal diagnosis of r(13) should alert mosaicism for deletion/duplication of r(13) and distal 13q deletion. Fetoplacental chromosomal discrepancy of r(13) may exist in case of mosaic r(13) detected by amniocentesis...
  26. ncbi A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 53:74-8. 2014
    ..22-p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal translocation of t(8;12)(q24.3;p11.2)...
  27. doi Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 52:571-4. 2013
    ..To present female pseudohermaphroditism in a prenatally diagnosed cloacal malformation...
  28. ncbi Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 26:138-46. 2006
    ..To present the prenatal diagnosis of a de novo complex chromosomal rearrangement (CCR) associated with de novo interstitial deletions and duplication and to review the literature...
  29. doi Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 51:100-5. 2012
    ..To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type II short rib-polydactyly syndrome (SRPS) (Majewski)...
  30. ncbi Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 53:90-4. 2014
    ..We report prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome (BWS) in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer...
  31. ncbi Prenatal diagnosis of iniencephaly
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:199-208. 2007
    ..Prenatal diagnosis of non-isolated iniencephaly and craniorachischisis should alert one to the possibility of chromosomal abnormalities and prompt a cytogenetic investigation...
  32. doi Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:485-91. 2011
    ..To present prenatal molecular cytogenetic diagnosis of mosaicism for terminal 3p deletion and distal 3q duplication using cultured and uncultured amniocytes, and the association with fetoplacental discrepancy...
  33. ncbi Detection of altered methylation status at 11p15.5 and 7q32 in placental mesenchymal dysplasia
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 53:68-73. 2014
    ..This paper aims to present molecular cytogenetic and epigenetic evaluation of placental mesenchymal dysplasia (PMD)...
  34. ncbi Direct transmission of the 18q- syndrome from mother to daughter
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Genet Couns 17:185-9. 2006
    ..Identification of affected females with the 18q- syndrome should include genetic counseling of possible direct transmission and consideration of birth control or prenatal genetic testing at reproductive age...
  35. doi Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies: prenatal diagnosis by amniocentesis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 48:403-7. 2009
    ..To present our experience of amniocentesis for the prenatal diagnosis of Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies...
  36. ncbi Chromosomal abnormalities associated with omphalocele
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:1-8. 2007
    ..Perinatal identification of omphalocele should alert chromosomal abnormalities and familial unbalanced translocations, and prompt thorough cytogenetic investigations and genetic counseling...
  37. doi Syndromes, disorders and maternal risk factors associated with neural tube defects (IV)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 47:141-50. 2008
    ..Perinatal identification of NTDs should alert the clinician to the maternal and fetal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling...
  38. ncbi Prenatal diagnosis and genetic analysis of X chromosome polysomy 49, XXXXY
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 20:754-7. 2000
    ..Our case also shows that QF-PCR assays with sex chromosome specific STR markers provide rapid prenatal diagnosis of numerical sex chromosome aneuploidy as well as its genetic cause in fetal cystic hygroma...
  39. ncbi Prenatal diagnosis of Dandy-Walker malformation associated with distal limb deficiencies
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 18:343-7. 2007
    ..The karyotype was 46,XX. We believe that this combination is significant. Concomitant DWM and symmetrical distal limb deficiencies may represent a new entity that awaits more new cases for further delineation...
  40. ncbi A paternally derived inverted duplication of distal 14q with a terminal 14q deletion
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Am J Med Genet A 139:146-50. 2005
    ..This is the first description of a deletion and inverted duplication of 14q, and adds 14q to the growing list of the inverted duplication associated with a terminal deletion...
  41. ncbi Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 23:195-200. 2012
    ..The present case adds to the literature of postaxial hexadactyly of the fingers in chromosome 9p deletion syndrome. We suggest that 9pter-p22 may contain genetic loci associated with human postaxial polydactyly...
  42. doi Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:345-52. 2011
    ....
  43. doi Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Gene 527:636-41. 2013
    ..The present case shows the usefulness of applying aCGH on uncultured amniocytes for rapid aneuploidy diagnosis in cases with prenatally detected fetal structural abnormalities. ..
  44. ncbi Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 22:1063-6. 2002
    ..To present the prenatal diagnosis and perinatal findings of partial trisomy 9p and distal 12p deletion...
  45. ncbi Prenatal diagnosis of partial trisomy 3p (3p21-->pter) and partial monosomy 11q (11q23-->qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    J Formos Med Assoc 107:822-6. 2008
    ..The present case provides evidence that partial trisomy 3p/monosomy 11q can be a genetic cause of holoprosencephaly and del(11)(q23-->qter) is associated with a duplex renal system...
  46. doi Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 52:273-7. 2013
    ..To present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome...
  47. doi Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:271-5. 2012
    ..To present molecular diagnosis and genetic counseling for osteogenesis imperfecta (OI) type IV in a pregnancy carried to term with favorable outcome...
  48. doi Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Gene 527:384-8. 2013
    ..The sSMC was likely inv dup(22) (q11.21). Prenatal diagnosis of an sSMC(22) at amniocentesis should alert CES. MLPA, aCGH and fetal ultrasound are useful for rapid diagnosis of CES in case of prenatally detected sSMC(22). ..
  49. doi Placental abnormalities and preeclampsia in trisomy 13 pregnancies
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 48:3-8. 2009
    ..The candidate preeclampsia-causing genes on chromosome 13, such as sFlt1, COL4A2 and periostin, are discussed...
  50. doi Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Gene 529:351-6. 2013
    ....
  51. doi Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Gene 529:169-75. 2013
    ..1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case...
  52. doi Chromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Gene 527:405-9. 2013
    ..We review the literature of chromosomal loci and genes responsible for conotruncal heart malformations and tetralogy of Fallot. ..
  53. doi An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Gene 529:176-80. 2013
    ..We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case. ..
  54. ncbi A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 22:255-61. 2011
    ....
  55. doi Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 52:120-4. 2013
    ..To present prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) in a pregnancy associated with abnormal maternal serum biochemistry...
  56. doi Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 52:106-9. 2013
    ..To present the prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta (OI) associated with unaffected parents and paternal gonadal mosaicism...
  57. ncbi Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay
    C P Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Genet Couns 23:405-13. 2012
    ..The karyotype of the girl was 46,XX,der(3)t(3;5)(p26.2;q34) pat. The present case adds distal 5q duplication to the list of chromosome aberrations associated with coarctation of the aorta...
  58. doi Prenatal diagnosis of mosaic tetrasomy 18p
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:625-9. 2012
    ..To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from isochromosome 18p, by interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes...
  59. ncbi Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay
    C P Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Genet Couns 23:447-55. 2012
    ..The present case adds unbalanced chromosome aberration of partial trisomy 1q and partial monosomy 6q to the list of genetic conditions associated with SMMCI...
  60. ncbi Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III
    C P Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Genet Couns 23:359-65. 2012
    ..Our report provides evidence that at triple helix glycine residue 844 (p.Gly1022), a glycine substitution by serine can result in OI type III but not a lethal outcome...
  61. doi VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 52:575-9. 2013
    ..We present a case of VACTERL association with hydrocephalus (VACTERL-H) in a fetus conceived by in vitro fertilization (IVF) and embryo transfer (ET) and review the literature...
  62. doi Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Gene 524:407-11. 2013
    ..We speculate that haploinsufficiency of SRD5A1 and TPPP may be responsible for hypospadias and cerebellar hypoplasia, respectively, in this case...
  63. doi Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:473-80. 2010
    ..23→pter) and partial trisomy 20p (20p12.1→pter) associated with ventriculomegaly, ventricular septal defect and midface hypoplasia...
  64. doi Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:333-40. 2010
    ..To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 7...
  65. doi Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 52:97-105. 2013
    ..This study is aimed at prenatal diagnosis of mosaic trisomy 12 and reviewing the literature...
  66. doi Partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31 →qter) presenting with fetal ascites and ventriculomegaly: prenatal diagnosis and array comparative genomic hybridization characterization
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Jhung Li, Taiwan
    Taiwan J Obstet Gynecol 49:506-12. 2010
    ..2→pter) and partial monosomy 22q (22q13.31→qter) presenting with fetal ascites and ventriculomegaly in the second trimester...
  67. ncbi Distal 10q trisomy associated with bilateral hydronephrosis in infancy
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Genet Couns 14:359-62. 2003
    ..We recommend detailed imaging studies of urinary tracts be performed on probands with chromosomal disorders involving a duplication of distal 10q...
  68. ncbi Prenatal diagnosis of interstitially satellited 6p
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 24:430-3. 2004
    ..To present the prenatal diagnosis of de novo interstitially satellited 6p and a review of the literature...
  69. ncbi Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Fertil Steril 86:1514.e1-2. 2006
    ..To describe the clinical findings of a patient with a de novo unbalanced X;autosome translocation...
  70. ncbi Prenatal diagnosis of de novo proximal interstitial deletion of 9q and review of the literature of uncommon aneuploidies associated with increased nuchal translucency
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 25:383-9. 2005
    ..To present the prenatal diagnosis and molecular cytogenetic analysis of de novo proximal interstitial deletion of 9q and to review the literature of uncommon aneuploidies associated with increased nuchal translucency (NT)...
  71. ncbi Prenatal diagnosis of the distal 11q deletion and review of the literature
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 24:130-6. 2004
    ..1). The parental karyotypes were normal. Level II ultrasound did not show fetal structural abnormalities. Postnatally, the proband manifested characteristic facial dysmorphism and camptodactyly...
  72. ncbi De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay
    C P Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Genet Couns 23:497-503. 2012
    ....
  73. doi Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:93-9. 2012
    ..To present rapid aneuploidy diagnosis (RAD) of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization (aCGH) using uncultured amniocytes...
  74. doi Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:325-35. 2007
    ..NTDs may be associated with aneuploidy. Perinatal identification of NTDs should alert one to the possibility of chromosomal abnormalities and prompt a thorough cytogenetic investigation and genetic counseling...
  75. ncbi Syndromes, disorders and maternal risk factors associated with neural tube defects (V)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 47:259-66. 2008
    ..Perinatal diagnosis of NTDs should alert doctors to the syndromes and disorders associated with NTDs, and prompt thorough etiologic investigation and genetic counseling...
  76. doi Ring chromosome 21 presenting with sacrococcygeal teratoma: prenatal diagnosis, molecular cytogenetic characterization and literature review
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Gene 522:111-6. 2013
    ..This is the first report of mosaic r(21) presenting with a fetal sacrococcygeal teratoma. We discuss cytogenetic abnormalities associated with fetal sacrococcygeal teratomas...
  77. ncbi Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, ROC
    Prenat Diagn 21:89-95. 2001
    ..The present report shows that adjunctive applications of molecular genetic analysis of the FGFR3 gene and three-dimensional ultrasound are useful for prenatal diagnosis of TD...
  78. doi Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:85-94. 2011
    ..To report five cases of major congenital malformations associated with common aneuploidies detected by rapid aneuploidy diagnosis...
  79. doi Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:188-95. 2011
    ....
  80. doi Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Gene 516:138-42. 2013
    ..We discuss the association of TBX3, TBX5 and MED13L gene duplication with coarctation of the aorta, and the association of RNASET2 gene haploinsufficiency with ventriculomegaly in this case...
  81. doi Partial monosomy 13q (13q21.32--->qter) and partial trisomy 8p (8p1--->pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:205-11. 2011
    ..To present array comparative genomic hybridization (aCGH) characterization of partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency (NT)...
  82. ncbi Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 23:223-9. 2012
    ..3::7q32-->7qter). The parental karyotypes were normal. This is the first report of pure distal 11q deletion without additional genomic imbalances in a patient with Jacobsen syndrome and a de novo unbalanced reciprocal translocation...
  83. ncbi Ventriculomegaly, intrauterine growth restriction, and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2 --> pter) in a fetus
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:81-6. 2010
    ..To present the prenatal sonographic findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with monosomy 17p (17p13.2 --> pter) in a fetus...
  84. ncbi Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 24:767-73. 2004
    ..To present prenatally detected mosaic tetrasomy for distal chromosome 15q and a review of the literature...
  85. ncbi Discrepancy between the fetus and extra-embryonic tissues in prenatally detected mosaic distal 5p deletion
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Genet Couns 15:473-6. 2004
    ..Our case also reinforces the notion that amniocentesis offers a more reliable diagnosis, compared to chorionic villus sampling...
  86. doi Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 52:580-5. 2013
    ..We describe a prenatal molecular diagnosis of hypochondroplasia (HCH) in a pregnancy not at risk of HCH and review the literature on prenatal diagnosis of HCH...
  87. ncbi Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Gene 536:425-9. 2014
    ..We review the phenotypic abnormality of craniosynostosis in previously reported patients with partial trisomy 6p. We discuss the genotype-phenotype correlation of the involved gene of BMP6 in this case...
  88. ncbi Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Gene 535:88-92. 2014
    ..We discuss the genotype-phenotype correlation in this case. Our case provides evidence for an association of primary amenorrhea and mental retardation with concomitant unbalanced X-autosome translocation and X chromosome rearrangement. ..
  89. ncbi Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:96-102. 2007
    ....
  90. ncbi Fetal therapy and cytogenetic testing: prenatal detection of chromosome aberration during thoracocentesis for congenital chylothorax by karyotyping from pleural effusion fluid and review of the literature
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Genet Couns 16:301-5. 2005
    ..The cytogenetic information acquired is useful for genetic counseling and perinatal obstetric management...
  91. doi A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung Shan North Road, Taipei 104, Taiwan
    Eur J Med Genet 51:368-72. 2008
    ..The present case provides the evidence that 15q14 deletion outside the region encompassing the CHRNA7 gene can cause generalized epilepsy, and a locus in 15q14 is associated with speech and language disorder...
  92. doi Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, and Institute of Clinical and Community Health Nursing, Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan
    Gene 519:164-8. 2013
    ..3 and 2q37.3 microdeletions. We discuss the consequence of haploinsufficiency of HDAC4, KIF1A, PASK, HDLBP, FRAP2 and D2HGDH on 2q37.3, and haploinsufficiency of MYT1L, SNTG2 and TPO on 2p25.3 in this case...
  93. doi A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Eur J Med Genet 55:666-9. 2012
    ..The present case provides evidence that haploinsufficiency of MYCN in 2p24.3 deletion in humans can cause structural and functional abnormalities of the inner ear...
  94. ncbi Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 52:420-5. 2013
    ..To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2)...
  95. ncbi Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 52:395-400. 2013
    ..To present prenatal diagnosis of mosaic trisomy 2...
  96. ncbi Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Taiwan J Obstet Gynecol 52:415-9. 2013
    ..To present a prenatal diagnosis of familial tuberous sclerosis complex (TSC)...
  97. doi Prenatal diagnosis of a distal 3p deletion associated with fetoplacental chromosomal discrepancy and confined placental mosaicism detected by array comparative genomic hybridization
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 52:278-84. 2013
    ....
  98. doi Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Gene 532:152-9. 2013
    ..3 deletion syndrome. ..
  99. doi 3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan Institute of Clinical and Community Health Nursing, National Yang Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming University, Taipei, Taiwan Electronic address
    Gene 532:80-6. 2013
    ..31-q29 encompasses EPHB3, CLDN1 and CLDN16, and the 972-kb deletion of 9q34.3 encompasses EHMT1. We review the literature of partial trisomy 3q associated with omphalocele and discuss the genotype-phenotype correlation in this case. ..
  100. doi 6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Gene 523:99-102. 2013
    ..We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of CUL7, VEGFA, NFKBIE and RUNX2 in this case...
  101. doi Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1→q31.1)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Gene 521:311-5. 2013
    ..We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of ZKSCAN5, ARPC1A, CYP3A43, RELN, LAMB1, IMMP2L and DOCK4 in this case...