Ontology highlight
ABSTRACT:
SUBMITTER: Peng Y
PROVIDER: S-EPMC7434726 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Peng Ying Y Pang Jialun J Hu Jiancheng J Jia Zhengjun Z Xi Hui H Ma Na N Yang Shuting S Liu Jing J Huang Xiaoliang X Tang Chengyuan C Wang Hua H
Molecular genetics & genomic medicine 20200604 8
<h4>Background</h4>This study aimed to define the molecular basis for 12 prenatal cases of Cri-du-chat syndrome (CdCS) and the potential genotyping-phenotyping association.<h4>Methods</h4>Karyotyping and single nucleotide polymorphism array analyses for copy number variants were performed.<h4>Results</h4>Nine cases had 5p terminal deletions and three had 5p interstitial deletions, and these cases had variable deletion sizes with partial overlapping. Phenotypically, besides intrauterine growth re ...[more]