Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.

ABSTRACT:

Background

Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype.

Results

Pathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbal

SUBMITTER: D'Angelo CS 

PROVIDER: S-EPMC5800070 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature