Citations 1
Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
Zepeda‐Mendoza, Cinthya , Goodenberger, McKinsey L. , Kuhl, Ashley , Rice, Gregory M., Hoppman, Nicole L., Hoppman, Nicole, Goodenberger, McKinsey
Clinical Case Reports | May 6, 2019 | Volume: 7 | Issue: 6 | Pages: 1154-1160
AbstractWe 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.