Article
[Analysis of 10 patients with duplications of 15q11q13 region and autism features].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2018
Wang Weipeng, Hu Changming, Bi Xin, Yuan Haiming
Abstract excerpt
OBJECTIVE To analyze the clinical and genetic features of 10 unrelated patients with duplications of 15q11q13 region and autism features.METHODS Karyotyping,chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for the patients and their parents.RESULTS Eight patients presented with a supernumerary marker chromosome (SMC) of unknown origin by G-banding analysis and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
