Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype

Abstract excerpt

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15, as a result of a type I or II paternal deletion (50%), maternal uniparental disomy (43%), imprinting defect (4%) or translocation (<1%). In very rare cases, atypical deletions, smaller or larger than the typical deletion, are...

Topics

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

• Share to Epigenetics and DNA Methylation
• Share to Genetic Syndromes and Imprinting
• Share to Prenatal Screening and Diagnostics