학술논문
Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
Document Type
article
Author
Source
Clinical Case Reports, Vol 7, Iss 6, Pp 1154-1160 (2019)
Subject
Language
English
ISSN
2050-0904
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.