Article
Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.
Molecular genetics & genomic medicine - 1 Aug 2020
Peng Ying, Pang Jialun, Hu Jiancheng, Jia Zhengjun, Xi Hui, Ma Na, Yang Shuting, Liu Jing, Huang Xiaoliang, Tang Chengyuan, Wang Hua
Abstract excerpt
BACKGROUND: This study aimed to define the molecular basis for 12 prenatal cases of Cri-du-chat syndrome (CdCS) and the potential genotyping-phenotyping association. METHODS: Karyotyping and single nucleotide polymorphism array analyses for copy number variants were performed. RESULTS: Nine cases had 5p terminal deletions and three had 5p interstitial deletions, and these cases had variable deletion sizes with...
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