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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.
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| 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 |