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

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.

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Bibliografiske detaljer
Udgivet i:Clin Case Rep
Main Authors: Zepeda‐Mendoza, Cinthya, Goodenberger, McKinsey L., Kuhl, Ashley, Rice, Gregory M., Hoppman, Nicole
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552940/
https://ncbi.nlm.nih.gov/pubmed/31183085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2186
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