Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.

ABSTRACT: We report a two-generation family with four females harboring an 8.5Mb heterozygous deletion of 5q15-q21.2 who present with dysmorphic craniofacial features and speech delay. We hypothesize haploinsufficiency of CHD1 to be contributing to the clinical features observed in this family.

SUBMITTER: Zepeda-Mendoza C 

PROVIDER: S-EPMC6552940 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature