Chih Ping Chen

Summary

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Detail Information

Publications160 found, 100 shown here

  1. 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...
  2. 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
    ....
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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...
  9. 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...
  10. 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)...
  11. 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
    ....
  12. 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...
  13. doi 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...
  14. doi 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. ..
  15. 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...
  16. doi 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...
  17. 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
    ....
  18. doi 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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
    ....
  24. doi 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)...
  25. doi 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)...
  26. 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. ..
  27. 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. ..
  28. doi 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...
  29. 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...
  30. 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...
  31. doi Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 52:125-8. 2013
    ..To present prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) in a pregnancy associated with abnormal maternal serum biochemistry...
  32. doi Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Gene 516:132-7. 2013
    ..We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints...
  33. doi First-trimester prenatal diagnosis of Ellis-van Creveld syndrome
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 51:643-8. 2012
    ..To present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis-van Creveld (EvC) syndrome...
  34. doi Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 51:630-4. 2012
    ..Coexistence of Klinefelter syndrome and holoprosencephaly (HPE) is rare. We report alobar HPE, cebocephaly, and micropenis in a Klinefelter fetus of a mother with type 2 diabetes mellitus with obesity and poor metabolic control...
  35. doi Monozygotic twins with trisomy 18 of paternal origin: prenatal diagnosis and molecular cytogenetic characterization in a pregnancy with one structurally abnormal living fetus and one intrauterine fetal demise
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:430-4. 2012
    ..To present prenatal diagnosis and molecular cytogenetic characterization of trisomy 18 in a monozygotic twin pregnancy, with one structurally abnormal living fetus and one intrauterine fetal demise...
  36. doi Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:411-7. 2012
    ..To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome 2 [r(2)]...
  37. doi Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:266-70. 2012
    ..To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type III short rib-polydactyly syndrome (SRPS) (Verma-Naumoff)...
  38. doi Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:186-91. 2012
    ....
  39. doi Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:245-52. 2012
    ..To present molecular cytogenetic characterization of an inverted duplication with terminal deletion of 10q, or inv dup del(10q) in a fetus with two concurrent chromosomal rearrangements...
  40. doi Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:276-9. 2012
    ..To present second-trimester ultrasound and molecular diagnosis for osteogenesis imperfecta (OI) type I in a female fetus and incidental identification of a dominant COL1A1 deletion mutation in her paucisymptomatic father...
  41. ncbi Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 23:201-6. 2012
    ..43-Mb duplication at 18q21.32-q23 encompassing the PIGN gene. We speculate that dual genome imbalances in FREMI at 9p22.3 and in PIGN at 18q21.3 are most likely responsible for the abnormal development of anorectum in this patient...
  42. ncbi Pure distal 9p deletion in a female infant with cerebral palsy
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 23:215-21. 2012
    ..The deletion is of paternal origin and encompasses the genes of ANKRDS15, DOCK8, FOXD4 and VLDLR. We discuss the genotype-phenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin...
  43. ncbi Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 23:1-7. 2012
    ..The oral and craniofacial abnormalities caused dental caries, severe malocclusion, and swallowing, feeding and speech problems. Dural calcification, and granulation in the ear drum and external ear canal were additionally observed...
  44. doi Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:71-6. 2012
    ..To present the perinatal findings and molecular cytogenetic characterization of prenatally detected mosaic r(21)...
  45. doi Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review
    Chih Ping Chen
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Taiwan J Obstet Gynecol 51:12-7. 2012
    ....
  46. doi Conjoined twins detected in the first trimester: a review
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:424-31. 2011
    ....
  47. doi Double aneuploidy with Edwards-Klinefelter syndromes (48,XXY,+18) of maternal origin: prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:479-84. 2011
    ..To present the prenatal diagnosis and molecular investigation of the parental origin and mechanism of nondisjunction underlying an 48,XXY,+18 karyotype in a fetus with congenital abnormalities, and to review the literature...
  48. ncbi Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 22:425-30. 2011
    ..We speculate that the gene dosage increase effect of the ING3 and LEP genes may be partially responsible for the phenotype of growth restriction and short stature in this patient...
  49. pmc Spatiotemporal expression of SERPINE2 in the human placenta and its role in extravillous trophoblast migration and invasion
    Schu Rern Chern
    Department of Biotechnology and Laboratory Science in Medicine, National Yang Ming University, and Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    Reprod Biol Endocrinol 9:106. 2011
    ..In this study, we further investigated the expression pattern of SERPINE2 in the human placenta and explored possible functional roles of SERPINE2 in regulating trophoblast activity...
  50. pmc Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene
    Chia Cheng Hung
    Graduate Institute of Clinical Genomics, National Taiwan University College of Medicine, Taipei, Taiwan
    BMC Med Genet 12:76. 2011
    ..In germline retinoblastoma, mutations in the RB1 gene predispose individuals to increased cancer risks during development. These mutations segregate as autosomal dominant traits with high penetrance (90%)...
  51. pmc Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
    Chia Cheng Hung
    Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan
    BMC Med Genet 7:72. 2006
    ..More than two-thirds of TSC patients are sporadic cases, and a wide variety of mutations in the coding region of the TSC1 and TSC2 genes have been reported...
  52. doi Prenatal sonographic features of fetuses in trisomy 13 pregnancies. IV
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:3-12. 2010
    ....
  53. doi Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Eur J Med Genet 53:217-20. 2010
    ..8 Mb de novo deletion of chromosome 2q24.2-->q24.3 detected by array-CGH. This region contains two neuronal voltage-gated sodium channel genes SCN2A and SCN3A...
  54. doi Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 48:389-99. 2009
    ..To investigate unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis...
  55. doi Prenatal sonographic features of fetuses in trisomy 13 pregnancies (III)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 48:342-9. 2009
    ....
  56. doi Concomitant craniorachischisis and omphalocele in a male fetus: prenatal magnetic resonance imaging findings and literature review
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 48:286-91. 2009
    ..To present the prenatal magnetic resonance imaging (MRI) findings of concomitant craniorachischisis and omphalocele, review the literature, and discuss the pathogenesis...
  57. doi Prenatal sonographic features of fetuses in trisomy 13 pregnancies (II)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 48:218-24. 2009
    ....
  58. doi Prenatal sonographic features of fetuses in trisomy 13 pregnancies (I)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 48:210-7. 2009
    ....
  59. ncbi Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 18:49-56. 2007
    ..We suggest that any therapeutic approach and counseling for prenatally diagnosed MPS II should consider the early signs of in utero marked mucopolysaccharide storage...
  60. doi Syndromes, disorders and maternal risk factors associated with neural tube defects (VII)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 47:276-82. 2008
    ..Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling...
  61. doi Syndromes, disorders and maternal risk factors associated with neural tube defects (III)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 47:131-40. 2008
    ..Perinatal identification of NTDs should alert the clinician to the syndromes, disorders, and maternal and fetal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling...
  62. doi Syndromes, disorders and maternal risk factors associated with neural tube defects (VI)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 47:267-75. 2008
    ..Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders, and maternal and fetal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling...
  63. ncbi Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 19:165-72. 2008
    ..Recognition and detailed evaluation of tracheal anomalies should be included in the early diagnostic workup for severe Pfeiffer patients...
  64. doi Prenatal diagnosis, fetal surgery, recurrence risk and differential diagnosis of neural tube defects
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 47:283-90. 2008
    ....
  65. doi Unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:62-8. 2010
    ..To present unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis...
  66. doi Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15)(q26.2q26.3)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:359-65. 2011
    ..To present molecular cytogenetic characterization of a prenatally detected duplication of 15q26.2→q26.3 in a fetus with overgrowth...
  67. doi De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:339-44. 2011
    ..To present molecular cytogenetic characterization of a de novo duplication of Xq22.1→q24 in a mentally retarded woman with short stature and premature ovarian failure...
  68. doi Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:331-8. 2011
    ..To present prenatal diagnosis of mosaic trisomy 8 and to review the literature...
  69. doi Inv dup del(9p): prenatal diagnosis 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 50:67-73. 2011
    ..To present molecular cytogenetic characterization of prenatally detected inverted duplication and deletion of 9p, or inv dup del(9p)...
  70. doi Unbalanced reciprocal translocations at amniocentesis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:48-57. 2011
    ..To present perinatal findings, modes of ascertainments, and modes of segregation in unbalanced reciprocal translocations detected at amniocentesis...
  71. doi Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Changhua, Taiwan
    Taiwan J Obstet Gynecol 49:500-5. 2010
    ....
  72. doi Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Tao Yuan, Taiwan
    Taiwan J Obstet Gynecol 49:487-94. 2010
    ..To present prenatal ultrasound findings and molecular diagnosis of microvillus inclusion disease, and to review the literature of abnormal prenatal ultrasound findings associated with congenital diarrhea...
  73. doi Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taichung, Taiwan
    Taiwan J Obstet Gynecol 49:481-6. 2010
    ..To present the perinatal findings and molecular genetic analysis of two siblings with Ellis-van Creveld (EvC) syndrome...
  74. doi Balanced reciprocal translocations detected at amniocentesis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan
    Taiwan J Obstet Gynecol 49:455-67. 2010
    ..To present perinatal findings, modes of ascertainment and parental decision in balanced reciprocal translocations detected at amniocentesis...
  75. doi Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Pan Chiao, Taiwan
    Taiwan J Obstet Gynecol 49:341-50. 2010
    ..To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 9...
  76. doi Detection and comparison of cytomegalovirus DNA levels in amniotic fluid and fetal ascites in a second-trimester fetus with massive ascites, hyperechogenic bowel, ventriculomegaly and intrauterine growth restriction
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:206-10. 2010
    ..To present a prenatal diagnosis of congenital cytomegalovirus (CMV) infection in a pregnancy with fetal ascites...
  77. doi Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:188-91. 2010
    ..We report such a case associated with a reciprocal translocation...
  78. doi Pathophysiology of increased fetal nuchal translucency thickness
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 49:133-8. 2010
    ....
  79. doi Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 50:212-6. 2011
    ..To present prenatal ultrasound and perinatal magnetic resonance imaging (MRI) findings of Galloway-Mowat syndrome...
  80. doi Syndromes, disorders and maternal risk factors associated with neural tube defects (II)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 47:10-7. 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...
  81. ncbi Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 27:967-9. 2007
  82. ncbi Second-trimester diagnosis of limb-body wall complex with literature review of pathogenesis
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Genet Couns 18:105-12. 2007
    ..The perinatal findings of LBWC with or without craniofacial defects were compared and the pathogenesis was discussed...
  83. ncbi Prenatal diagnosis of mosaic trisomy 16 associated with congenital diaphragmatic hernia and elevated maternal serum alpha-fetoprotein and human chorionic gonadotrophin
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 24:63-6. 2004
    ..To present the clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 16...
  84. ncbi Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 24:455-62. 2004
    ..To present the prenatal diagnosis of complete trisomy 9 and to review the literature..
  85. ncbi Meckel syndrome: genetics, perinatal findings, and differential diagnosis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:9-14. 2007
    ..The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly...
  86. ncbi De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Genet Couns 15:437-42. 2004
    ..3) (absent), centromeric to the known minimal holoprosencephaly critical region, D21S13-21qter. The present case provides evidence of the correlation of a distal region of chromosome 21 to the phenotypic effects of monosomy 21...
  87. ncbi Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter)
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 25:112-8. 2005
    ..To present the perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q and partial monosomy 20q and a review of the literature...
  88. ncbi A comparison of maternal age, sex ratio and associated anomalies among numerically aneuploid, structurally aneuploid and euploid holoprosencephaly
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Genet Couns 16:49-57. 2005
    ....
  89. ncbi A comparison of maternal age, sex ratio and associated major anomalies among fetal trisomy 18 cases with different cell division of error
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 25:327-30. 2005
    ..To compare the maternal age, sex ratio, and associated major anomalies among fetal trisomy 18 cases with different cell division of error...
  90. ncbi Partial trisomy 1p (1p36.22-->pter) and partial monosomy 9p (9p22.2-->pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Genet Couns 17:301-6. 2006
    ..22;p22.2)pat. Achalasia, an uncommon esophageal motor disorder, has not been previously described in association with either a deletion of 9p or a duplication of 1p...
  91. ncbi Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3-->qter) and partial trisomy 18q (18q23-->qter) in a fetus associated with cystic hygroma and ambiguous genitalia
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 25:492-6. 2005
    ..To present the prenatal diagnosis and molecular cytogenetic analysis of a fetus with nuchal cystic hygroma and ambiguous genitalia...
  92. ncbi Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Prenat Diagn 26:725-9. 2006
    ..To present the perinatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome...
  93. ncbi Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Prenat Diagn 25:502-6. 2005
    ..To present the prenatal diagnosis, sonographic findings and, molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera and to review the literature...
  94. ncbi Novel mutation in the TSC2 gene associated with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Institute of Clinical Nursing, School of Nursing, National Yang Ming University, Taipei, Taiwan
    J Formos Med Assoc 105:599-603. 2006
    ..Familial molecular analysis of TSC1 and TSC2 in cases with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis lesions is helpful in prenatal diagnosis and genetic counseling...
  95. ncbi Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Am J Med Genet A 140:1594-600. 2006
    ..Our case provides evidence that the gene dosage effect of the NSD1 gene causes a reversed phenotype of microcephaly and short stature...
  96. ncbi 24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung Shan North Road, Taipei, Taiwan
    Eur J Med Genet 49:516-9. 2006
    ..24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism...
  97. ncbi Prenatal two- and three-dimensional ultrasound diagnosis of limb reduction defects associated with homozygous alpha-thalassemia
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, and Institute of Clinical Nursing, School of Nursing, National Yang Ming University, Taipei, Taiwan, ROC
    Fetal Diagn Ther 21:374-9. 2006
    ..We present the prenatal two-dimensional (2D-) and three-dimensional ultrasound (3D-US) diagnosis of limb reduction defects associated with homozygous alpha-thalassemia and a review of the literature...
  98. ncbi Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter)
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
    Genet Couns 17:57-63. 2006
    ..2-->pter) and partial monosomy 12q (12q24.33-->qter) with a cerebellar malformation and the usefulness of SKY and FISH in the identification of a de novo aberrant chromosome resulting from an unbalanced translocation...
  99. ncbi Prenatal diagnosis of inherited satellited non-acrocentric chromosomes
    C P Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, R O C
    Prenat Diagn 20:384-9. 2000
    ..Detailed genetic counselling, cytogenetic studies, FISH and genetic marker analyses are useful in prenatal detection of abnormal chromosome rearrangements...
  100. ncbi Syndromes and disorders associated with omphalocele (II): OEIS complex and Pentalogy of Cantrell
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:103-10. 2007
    ..Prenatal detection of an abdominal wall defect associated with multiple midline defects should alert one to the possibility of OEIS complex and pentalogy of Cantrell and prompt the genetic investigation and counseling of the disorders...
  101. ncbi Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:111-20. 2007
    ..Perinatal identification of omphalocele should alert one to the possibility of omphalocele-related disorders and familial inheritance and prompt a thorough genetic counseling for these disorders...