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.

Detalles Bibliográficos
Autores principales: Zepeda‐Mendoza, Cinthya, Goodenberger, McKinsey L., Kuhl, Ashley, Rice, Gregory M., Hoppman, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552940/
https://www.ncbi.nlm.nih.gov/pubmed/31183085
http://dx.doi.org/10.1002/ccr3.2186
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author Zepeda‐Mendoza, Cinthya
Goodenberger, McKinsey L.
Kuhl, Ashley
Rice, Gregory M.
Hoppman, Nicole
author_facet Zepeda‐Mendoza, Cinthya
Goodenberger, McKinsey L.
Kuhl, Ashley
Rice, Gregory M.
Hoppman, Nicole
author_sort Zepeda‐Mendoza, Cinthya
collection PubMed
description 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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spelling pubmed-65529402019-06-10 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 Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-05-04 /pmc/articles/PMC6552940/ /pubmed/31183085 http://dx.doi.org/10.1002/ccr3.2186 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Zepeda‐Mendoza, Cinthya
Goodenberger, McKinsey L.
Kuhl, Ashley
Rice, Gregory M.
Hoppman, Nicole
Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
title Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
title_full Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
title_fullStr Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
title_full_unstemmed Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
title_short Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
title_sort familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552940/
https://www.ncbi.nlm.nih.gov/pubmed/31183085
http://dx.doi.org/10.1002/ccr3.2186
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