Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay. Issue 6 (4th May 2019)

• Record Type: Journal Article
• Authors: Zepeda‐Mendoza, Cinthya; Goodenberger, McKinsey L.; Kuhl, Ashley; Rice, Gregory M.; Hoppman, Nicole
• Is Part Of: Clinical case reports. Volume 7:Issue 6(2019)
• Page Start: 1154
• Page End: 1160
• Publication Date: 2019-05-04
• Subjects: CHD1 -- chromosome microarray -- copy number variant -- deletion -- developmental delay -- haploinsufficiency; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.2186
• Languages: English
• ISSNs: 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. Abstract : Haploinsufficiency of CHD1 in this family is hypothesized to contribute to the speech abnormalities in the absence of intellectual deficiency, in agreement with the hypothesis that CHD1 deletions can confer variable neurological phenotypes while missense mutations cause the more severe Pilarowski‐Bjornsson syndrome.