Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.

ABSTRACT:

Background

Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was to determine the prevalence, genetic characteristics and clinical phenotypes of 17p11.2 deletion/duplication in Chinese children with development delay and in fetuses with potential congenital defects.

Methods

7077 children with development delay and/or intellectual disability were screened by multiplex ligation-dependent probe amplification P245 assay. 7319 fetuses with potential congenital defects were tested using next generation sequencing technique.

Results

417 of 7077 pediatric patients were determined to carry chromosome imbalance. 28 (28/7077, 0

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC8411507 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature