Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

ABSTRACT: 3p deletion syndrome is a rare contiguous-gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and characterized by developmental delay, growth retardation, and dysmorphic features. All reported cases have involved, at a minimum, the deletion of chromosome 3 telomeric to the band 3p25.3. Despite the presence of several genes in this region that are involved in neural development, a causative relationship between a particular transcript and the observed clinical manifestations has remained elusive. We have identified a child with characteristic physical features of 3p deletion syndrome and both verbal and nonverbal developmental delay who carries a de novo balanced translocation involving chromosomes 3 and 10. Fine mapping of this rearrangement demonstr

SUBMITTER: Fernandez T 

PROVIDER: S-EPMC1182094 | biostudies-literature | 2004 Jun

REPOSITORIES: biostudies-literature