Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.
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ABSTRACT:
SUBMITTER: Zepeda-Mendoza C
PROVIDER: S-EPMC6552940 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
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Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.
Zepeda-Mendoza Cinthya C Goodenberger McKinsey L ML Kuhl Ashley A Rice Gregory M GM Hoppman Nicole N
Clinical case reports 20190504 6
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 <i>CHD1</i> to be contributing to the clinical features observed in this family. ...[more]
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