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Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p
5p deletion syndrome or Cri du Chat syndrome is a autosomal deletion syndrome, caused by the de novo deletion of chromosome 5p in the majority of the cases. Clinical features include developmental delay, microcephaly, subtle facial dysmorphism and high-pitched cry. With the advent of newer technique...
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| Опубликовано в: : | J Pediatr Genet |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Georg Thieme Verlag KG
2013
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| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5021018/ https://ncbi.nlm.nih.gov/pubmed/27625854 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13062 |
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