Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome

We report the case of a child from Central Brazil with global developmental delay (GDD), syndromic features, and absence of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, with a rearrangement at Xq28 harboring the DKC1 gene. GTC-banding revealed a male karyotype (46,...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Mol Syndromol
Autores principales: Gonçalves Ramos, Lélia L., Plaza Pinto, Irene, Deb, Rajib, Ribeiro, Cristiano L., Mírian da Cruz e Cunha, Damiana, Bernardes Minasi, Lysa, Cordeiro Silva, Antonio M.T., da Cruz, Aparecido D.
Formato: Artigo
Lenguaje:Inglês
Publicado: S. Karger AG 2019
Materias:
Short Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6738202/
https://ncbi.nlm.nih.gov/pubmed/31602194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000500005
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares