A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report.

ABSTRACT:

Background

Chromosomal imbalances, recognized as the major cause of mental retardation, are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. To date, interstitial deletion of long arm of chromosome 2 have been reported for more than 100 cases, although studies reporting small interstitial deletions involving the 2q24.1q24.2 region are rare. With the widespread clinical use of comparative genomic hybridization chromosomal microarray technology, several cryptic chromosome imbalances have outlined new genotype-phenotype correlations and isolated a number of distinctive clinical conditions.

Results

here we report on a girl with mental retardation and generalized hypotonia. A genome-wide screen for copy number variations (CN

SUBMITTER: Palumbo O 

PROVIDER: S-EPMC3267682 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature