Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

ABSTRACT:

Background

The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation.

Aim

We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome.

Results

We estimate the prevalence of the syndrome to be 1 in 16,000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic ano

SUBMITTER: Koolen DA 

PROVIDER: S-EPMC3071570 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature