Results 61 to 70 of about 210 (79)

Prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis with a favorable outcome. Case report: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Fang-Yu Hung, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang   +6 more
doaj   +1 more source

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

Prenatal Diagnosis, Volume 46, Issue 4, Page 589-592, April 2026.
Haley M. Crane, Rose Giardine, Alanna Strong, K. Taylor Wild, Elaine Zackai, Lorraine Dugoff, Teresa N. Sparks, Beverly Coleman, Julie S. Moldenhauer   +8 more
wiley   +1 more source

Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present prenatal diagnosis of mosaic trisomy 2. Materials and Methods: A 29-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening, and the cytogenetic result was 47,XY,+2[8]/46,XY[22 ...
Chih-Ping Chen, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang   +8 more
doaj   +1 more source

Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion.
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang   +10 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2–q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo 5q35 microdeletion associated with Sotos syndrome. Methods: This was the first pregnancy of a 29-year-old woman.
Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Yu-Peng Liu, Yu-Ling Kuo, Yen-Ni Chen, Peih-Shan Wu, Dai-Dyi Town, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang   +10 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1–q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome 4 [sSMC(4)] derived from 4q11.1–q12 and q13.2, and 5q13.2 microdeletion with no apparent phenotypic ...
Chih-Ping Chen, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Chien-Wen Yang, Chen-Chi Lee, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +9 more
doaj   +1 more source

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy with a favorable fetal outcome. Case Report: A 38-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Chi Lee, Chien-Ling Chiu, Wayseen Wang   +6 more
doaj   +1 more source

Use of the MS-MLPA assay in prenatal diagnosis of Prader–Willi syndrome with mosaic trisomy 15

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present a prenatal diagnosis strategy of using Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) for the detection of maternal uniparental disomy 15/trisomy 15 (UPD(15) mat/T15) mosaicism.
Meizi Zhang, Yuehong Liang, Hui Li, Fengqin Xu   +3 more
doaj   +1 more source

Mosaic distal 13q duplication due to mosaic unbalanced translocation of 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present mosaic distal 13q duplication due to mosaic unbalanced translocation 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome.
Chih-Ping Chen, Fang-Tzu Wu, Shu-Yuan Chang, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Meng-Shan Lee, Chien-Ling Chiu, Wayseen Wang   +9 more
doaj   +1 more source

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Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic 46,XX,dup(9)(q22.3q34.1)/46,XX at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics and Gynecology, 2022
Yun-Yi Chen, Shin-Wen Chen, Fang-Tzu Wu   +2 more
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