Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

Abstract excerpt

Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has made it difficult to characterize the clinical and molecular aspects of the syndrome. Recent advances in cytogenetic...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Child, Preschool