Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

ABSTRACT:

Background

Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients.

Methods

We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained mental retardation, autism, or congenital anomalies and in unaffected persons.

Results

We identified 25 persons with a recurrent 1.35-Mb deletion within 1q21.1 from screening 5218 patients. The microdeletions had arisen de novo in eight patients, were inherited from a mildly affected parent in three patients, were inherited from an apparently unaffected parent

SUBMITTER: Mefford HC 

PROVIDER: S-EPMC2703742 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature