Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.

ABSTRACT:

Background

Williams-Beuren syndrome (WBS; OMIM #194,050) is a rare multisystem disorder of a variable phenotypic spectrum caused by a heterozygous microdeletion in the WBS chromosome region (WBSCR) in 7q11.23.

Methods

We screened 38 Chinese Han patients with suspected WBS using chromosomal microarray analysis (CMA).

Results

Pathogenic CNVs were identified in 34 of the patients, including 29 cases with a typical 7q11.23 microdeletion, three cases with atypical copy number variations (CNVs) within the WBS chromosome region and two cases with CNVs associated with other known syndromes. All 29 WBS patients with a typical microdeletion exhibited distinctive facial dysmorphisms and developmental delay. We observed that the incidence of pulmonary abnormalities was slightly h

SUBMITTER: Xia Y 

PROVIDER: S-EPMC6393686 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature