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

Abstract

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.

Keywords

• CHD1
• chromosome microarray
• copy number variant
• deletion
• developmental delay
• haploinsufficiency