Familial 4p Interstitial Deletion Provides New Insights and Candidate Genes Underlying This Rare Condition.

Abstract excerpt

Chromosome 4p deletions can lead to two distinct phenotypic outcomes: Wolf--Hirschhorn syndrome (a terminal deletion at 4p16.3) and less frequently reported proximal interstitial deletions (4p11-p16). Proximal 4p interstitial deletions can result in mild to moderate intellectual disability, facial dysmorphisms, and a tall thin body habitus. To date, only 35 cases of proximal 4p interstitial deletions have been...

Topics

• Humans
• Female
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 4
• Chromosome Disorders
• Phenotype
• Movement Disorders