Results 91 to 100 of about 7,985 (170)

Fluorescence in situ hybridization in uncultured amniocytes for detection of aneuploidy in 4210 prenatal cases.

Chinese medical journal, 2011
Almost all reported fluorescence in situ hybridization (FISH) kits for prenatal diagnosis use probes from foreign (non-Chinese) countries. The aim of this study was to analyze the reliability of domestic (Chinese) FISH probe sets to detect aneuploidies of chromosomes 13, 18, 21, X, and Y related to prenatal diagnosis in 4210 cases.Cytogenetic ...
Chan-wei, Jia, Shu-yu, Wang, Yan-min, Ma, Yong-lian, Lan, Yan-mei, Si, Lan, Yu, Li-ying, Zhou   +6 more
openaire   +1 more source

Chromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review

, 2013
[[abstract]]We present prenatal diagnosis of de novo 22q11.2 microdeletion syndrome using uncultured amniocytes in a pregnancy with conotruncal heart malformations in the fetus.
陳持平;Chen, Chih-Ping;Hua, Jian-Pei;Huang, Jian-Pei;Chen, Yi-Yung;Chen, Yi-Yung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Chen, Wen-Lin;Chen, Wen-Lin;Wang, Wayseen;Wang, Wayseen
core  

Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes

, 2013
[[abstract]]We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1→pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus.
陳持平;Chen, Chih-Ping;Hu, Ming-Chao;Huang, Ming-Chao;Chen, Yi-Yung;Chen, Yi-Yung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yu-Ting;Chen, Yu-Ting;Su, Jun-Wei;Su, Jun-Wei;Wang, Wayseen;Wang, Wayseen
core  

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases. [PDF]

Front Genet, 2023
Ma N, Zhu Z, Hu J, Pang J, Yang S, Liu J, Chen J, Tang W, Kuang H, Hu R, Li Z, Wang H, Peng Y, Xi H.   +13 more
europepmc   +1 more source

Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports. [PDF]

Front Med (Lausanne), 2022
Kang KM, Kim SH, Park JE, Kim H, Jang HY, Go M, Yang SH, Ryu SW, Bae SM, Cha DH, Shim SH.   +10 more
europepmc   +1 more source

Mosaic isochromosome 20q at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes

Taiwanese Journal of Obstetrics and Gynecology, 2023
openaire   +3 more sources

Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype. [PDF]

Mol Cytogenet, 2022
Zhou Y, Zhang M, Zhu Y, Zhao Q.
europepmc   +1 more source

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing. [PDF]

Front Genet, 2022
Yu J, Chen N, Chen M, Shen M, Qian Y, Dong M.   +5 more
europepmc   +1 more source

Mosaic isochromosome 20q at amniocentesis: prenatal diagnosis, genetic counseling and literature review

, 2020
[[abstract]]Objective We present prenatal diagnosis of mosaic isochromosome 20q [i(20q)] at amniocentesis, and we review the literature. Case report A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
陳持平;Chen, Chih-Ping;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Wu, Fang-Tzu;Wu, Fang-Tzu;Town, Dai-Dyi;Town, Dai-Dyi;Wang, Wayseen;Wang, Wayseen
core  

Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities. [PDF]

Mol Cytogenet, 2022
Yu C, Tian Y, Qi L, Wang B.
europepmc   +1 more source