Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic motherChih 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...
- 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...
- 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...
- 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)]...
- 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...
- 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
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- 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...
- 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)...
Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformationsC 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...
- 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...
- 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...
- 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)...
- 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
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- 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...
- 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
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- 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...
Spatiotemporal expression of SERPINE2 in the human placenta and its role in extravillous trophoblast migration and invasionSchu 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...
- 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%)...
Molecular and clinical analyses of 84 patients with tuberous sclerosis complexChia 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
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- 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
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- 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...
- Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review
Chih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
Fertil Steril 90:1198.e11-8. 2008
..To describe the molecular and cytogenetic characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male...
- Chromosomal abnormalities associated with neural tube defects (II): partial aneuploidy
Chih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
Taiwan J Obstet Gynecol 46:336-51. 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...
- Prenatal diagnosis of arachnoid cysts
Chih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
Taiwan J Obstet Gynecol 46:187-98. 2007
..Prenatal diagnosis of intracranial hypoechoic lesions should include a differential diagnosis of arachnoid cysts and prompt genetic investigations...
- 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...
- 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...
- 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
- 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...
- 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...
- 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
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- 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...
- 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
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- 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...
- 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...
- 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...
- 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)...
- 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...
- 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
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- 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...
- 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...
- 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...
- 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...
- 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...
- 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
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- 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...
- 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
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- 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...
- 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...
- 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...
- 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...
- 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...
- Prenatal diagnosis of cephalothoracopagus janiceps disymmetros using three-dimensional power Doppler ultrasound and magnetic resonance imaging
C P Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
Ultrasound Obstet Gynecol 22:299-304. 2003
..Three-dimensional and power Doppler ultrasound established the definitive classification of cephalothoracopagus conjoined twins and displayed the shared circulation between the two separate hearts...
- 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...
- Prenatal diagnosis of premature centromere division-related mosaic variegated aneuploidy
Chih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
Prenat Diagn 24:19-25. 2004
..To present the prenatal diagnosis of premature centromere division (PCD)-related mosaic variegated aneuploidy (MVA) and a review of the literature...
- 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...
- 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...
- 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...
- 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...
- 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
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- 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..
- 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...
- 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
..A lymphangioma was noted over the right arm and was excised at age 3 days. Extraembryonic tissues and the infant's skin were cytogenetically and molecularly studied...
- Prenatal diagnosis of de novo terminal deletion of chromosome 7q
Chih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
Prenat Diagn 23:375-9. 2003
..To present the prenatal diagnosis and perinatal findings of a de novo terminal deletion of chromosome 7q...
- Multiple globules in a cystic ovarian teratoma
C P Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
Fertil Steril 75:618-9. 2001
..To describe the characteristic imaging findings of multiple globules and globules-fluid level in a cystic ovarian teratoma...
- 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...
- Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly
C P Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital and National Yang Ming University, Taipei, Taiwan, Republic of China
Prenat Diagn 21:102-5. 2001
..We propose that cytogenetic analysis is beneficial and warranted in pregnancies with fetal neural tube defects...
- Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts
C P Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
Prenat Diagn 21:317-20. 2001
..Prenatal sonographic detection of a duplex renal system, pyelectasis and orofacial clefts should warrant a careful assessment of fetal anatomy and prompt cytogenetic analysis looking for chromosomal aberrations...
- Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis
C P Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
Prenat Diagn 21:346-50. 2001
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- 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...
- 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...
- Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction
Chih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
Prenat Diagn 23:40-3. 2003
..To present the prenatal diagnosis and perinatal findings of mosaic ring chromosome 22...
- 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...
- 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...
- Successful triplet pregnancy and delivery after oocyte donation in an infertile female with chromosome mosaicism for monosomy X, partial trisomy X, and terminal Xp deletion
Chih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Republic of China, Taipei, Taiwan
Fertil Steril 79:1231-3. 2003
..To present successful triplet pregnancy and delivery after oocyte donation and IVF in a female with chromosome mosaicism for monosomy X, partial trisomy X, and terminal Xp deletion...
- 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...
- Prenatal diagnosis of mosaic distal 5p deletion and review of the literature
Chih-Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China
Prenat Diagn 24:50-7. 2004
..Fetuses with the mosaic distal 5p deletion may be associated with the sonographic findings of microcephaly and cerebellar hypoplasia, and fetoplacental and fetoamnionic chromosomal discrepancies...
- First- and second-trimester Down syndrome screening: current strategies and clinical guidelines
Sheng Wen Shaw
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, and Chang Gung University College of Medicine, Taoyuan, Taiwan
Taiwan J Obstet Gynecol 47:157-62. 2008
..In this review, we outline the various options with respect to DS screening and hope that this will provide practical information for physicians offering such screenings...
- Genome-wide detection of uniparental disomy in a fetus with intrauterine growth restriction using genotyping microarrays
Yung Kuei Soong
Department of Obstetrics and Gynecology, Lin Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan
Taiwan J Obstet Gynecol 48:152-8. 2009
..To present the clinical and molecular features of a fetus with confined trisomy 16 mosaicism with maternal uniparental disomy (UPD), using various prenatal diagnostic techniques...
- Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system
Sheng Wen Shaw
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Linkou Medical Center, Taoyuan, Taiwan
Acta Obstet Gynecol Scand 87:960-8. 2008
..Use of Denaturing High-Performance Liquid Chromatography (DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA)...
- 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
..The pregnancy was terminated, and a malformed fetus was delivered with characteristic dysmorphism. Multiple samplings of fetal and extraembryonic tissues were performed to investigate the mosaicism...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
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- Prenatal 3-dimensional sonographic and MRI findings in omphalocele-exstrophy-imperforate anus-spinal defects complex
Chih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung Shan North Road, Taipei, Taiwan
J Clin Ultrasound 36:308-11. 2008
..We suggest that fetal 3-dimensional sonography with tomographic ultrasound imaging and MRI are useful adjuncts to conventional 2-dimensional sonography in the prenatal diagnosis of OEIS complex...
- 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...
- 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...
- 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...
- 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
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- 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...
- Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome
Sheng Wen Shaw
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan
J Hum Genet 53:136-43. 2008
..Our preliminary results demonstrated the critical breakpoint of chromosome 21 involving ROB might lie between BAGE2 and the centromere, located from 10.1 to 12.3 Mb...
- 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...
- 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...
