Rezultaty - "Molecular Cytogenetics"

Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies od Emine Ikbal Atli, Engin Atli, Cihan Inan, Gülizar Fusun Varol, Cisem Mail, Esra Altan Erbilen, Sinem Yalcintepe, Selma Demir, Hakan Gurkan

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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 od Chih-Ping Chen, Chyi-Chyang Lin, Yi-Ning Su, Fuu-Jen Tsai, Ju-Ting Chen, Schu-Rern Chern, Chen-Chi Lee, Dai-Dyi Town, Li-Feng Chen, Pei-Chen Wu, Wayseen Wang

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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 od Chih-Ping Chen, Schu-Rern Chern, Yi-Yung Chen, Pei-Chen Wu, Dai-Dyi Town, Wen-Lin Chen, Wayseen Wang

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Molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects od Fagui Yue, Meiling Sun, Hongguo Zhang, Yuting Jiang, Leilei Li, Jing He, Ruizhi Liu

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Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review od Mei-Ling Sun, Hong-Guo Zhang, Xiang-Yin Liu, Fa-Gui Yue, Yu-Ting Jiang, Shi-Bo Li, Rui-Zhi Liu

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Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities od Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Wen-Lin Chen, Wayseen Wang

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

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot od Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1 od Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Wen Pan, Wayseen Wang

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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 od Chih-Ping Chen, Schu-Rern Chern, Chen-Yu Chen, Pei-Chen Wu, Li-Feng Chen, Chen-Wen Pan, Wayseen Wang

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Mosaic Ring Chromosome 18, Ring Chromosome 18 Duplication/Deletion and Disomy 18: Perinatal Findings and Molecular Cytogenetic Characterization by Fluorescence In Situ Hybridization and Array Comparative Genomic Hybridization od Chih-Ping Chen, Yung-Ting Kuo, Shuan-Pei Lin, Yi-Ning Su, Yann-Jang Chen, Rui-Yuan Hsueh, Yi-Hui Lin, Pei-Chen Wu, Chen-Chi Lee, Yu-Ting Chen, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry od Chih-Ping Chen, Yi-Ning Su, Shuan-Pei Lin, Schu-Rern Chern, Jun-Wei Su, Yu-Ting Chen, Meng-Shan Lee, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review od Chih-Ping Chen, Ming Chen, Chia-Hsun Wu, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Shun-Ping Chang, Li-Feng Chen, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion od Chih-Ping Chen, Tsang-Ming Ko, Yi-Ning Su, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Kevin Ko, Chen-Chi Lee, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry od Chih-Ping Chen, Kwui-Shuai Hwang, Her-Young Su, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Yu-Ting Chen, Wen-Lin Chen, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia od Chih-Ping Chen, Chen-Ju Lin, Shin-Wen Chen, Fang-Tzu Wu, Schu-Rern Chern, Peih-Shan Wu, Yun-Yi Chen, Wen-Lin Chen, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter) od Chih-Ping Chen, Fung-Yu Hung, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Wayseen Wang

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Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound od Chih-Ping Chen, Liang-Kai Wang, Pei-Chen Wu, Tung-Yao Chang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Chien-Wen Yang, Wayseen Wang

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Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects od Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication od Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang

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