Search Results - "cytogenetics"

Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin by Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Wen-Lin Chen, Li-Feng Chen, Wayseen Wang

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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 by 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 by 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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Routine use of microarray-based gene expression profiling to identify patients with low cytogenetic risk acute myeloid leukemia: accurate results can be obtained even with suboptimal samples by de la Blétière Diane Raingeard, Blanchet Odile, Cornillet-Lefèbvre Pascale, Coutolleau Anne, Baranger Laurence, Geneviève Franck, Luquet Isabelle, Hunault-Berger Mathilde, Beucher Annaelle, Schmidt-Tanguy Aline, Zandecki Marc, Delneste Yves, Ifrah Norbert, Guardiola Philippe

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

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Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line by Chih-Ping Chen, Yi-Yung Chen, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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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Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wen-Lin Chen, Meng-Shan Lee, Wayseen Wang

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45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birth by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang

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False positive non-invasive prenatal testing (NIPT) for partial deletion of chromosome 7q in a pregnancy associated with maternal uterine fibroids and a normal maternal blood cytogenetic result by Chih-Ping Chen

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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 by 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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Mosaic 46,XY,dup(14) (q12q22.3)/46, XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues by Chih-Ping Chen, Fang-Tzu Wu, Chen-Yu Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Meng-Shan Lee, Yun-Yi Chen, 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 by 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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