4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.

Abstract excerpt

Chromosome 4q deletion syndrome is a rare intellectual disability disorder caused by a variety of non-recurrent deletions of 4q. We describe the evolution of the phenotypic features of a female patient with a previously unreported deletion of 4q12-4q21.21 (hg 18; 54,711,575-79,601,919). By review reported individuals with interstitial deletions extending telomeric from 4q12 have syndromic intellectual disability...

Topics

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

• Share to Chromosome Breakage
• Share to Chromosome Deletion