Search Results - "cytogenetics"

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wen-Lin Chen, Chen-Chi Lee, 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 by 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 by 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 by 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) by 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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Establishment of in vitro Calibration Curve for 60Co-γ-rays Induced Phospho-53BP1 Foci, Rapid Biodosimetry and Initial Triage, and Comparative Evaluations With γH2AX and Cytogenetic Assays by Rajesh Kumar Chaurasia, Rajesh Kumar Chaurasia, Kapil B. Shirsath, Utkarsha N. Desai, Nagesh N. Bhat, Nagesh N. Bhat, B. K. Sapra, B. K. Sapra

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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 aneuploid cell line and a favorable fetal outcome by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Wen Pan, Wayseen Wang

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Detection of mosaicism for 46,X,i(Y) (q10) in the blood lymphocytes in a phenotypically normal male neonate with prenatally detected 45,X/46, XY at amniocentesis and cytogenetic discrepancy in various tissues by Chih-Ping Chen, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Chen-Chi Lee, Wen-Lin Chen, Yun-Yi Chen, Wayseen Wang

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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 by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Chi Lee, Chien-Ling Chiu, Wayseen Wang

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Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome by Chih-Ping Chen, Te-Yao Hsu, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang

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Low-level mosaic trisomy 7 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chien-Wen Yang, Chien-Ling Chiu, Wayseen Wang

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A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling by Hui Yin, Hua Xie, Jizhen Zou, Xue Ye, Ying Liu, Cai He, Shaofang Shangguan, Haoran Liu, Xiaoli Chen, Xiaobo Chen

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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 by 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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Clinical, cytogenetic and toxicological studies in rural workers exposed to pesticides in Botucatu, São Paulo, Brazil Estudos clínicos, citogenéticos e toxicológicos em trabalhadores rurais expostos a pesticidas em Botucatu, São Paulo, Brasil by Salete Marcia Bréga, Igor Vassilieff, Alaor Almeida, Amauri Mercadante, Denise Bissacot, Paulo R. Cury, Dertia V. Freire-Maia

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Low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and perinatal progressive decrease of the aneuploid cell line by Chih-Ping Chen, Tsung-Hsuan Lai, Shin-Wen Chen, Schu-Rern Chern, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang

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Low-level mosaic trisomy 20 without uniparental disomy 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes and perinatal progressive decrease of the aneuploid cell line by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Schu-Rern Chern, Peih-Shan Wu, Chen-Chi Lee, Wayseen Wang

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Low-level mosaic trisomy 15 at amniocentesis without uniparental disomy 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the aneuploid cell line by Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Yun-Yi Chen, 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 by Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Wayseen Wang

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Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome by Chih-Ping Chen, Ming Chen, Gwo-Chin Ma, Shun-Ping Chang, Fang-Tzu Wu, Yen-Ting Pan, Schu-Rern Chern, Wen-Lin Chen, Chen-Wen Pan, 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 by 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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