Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)

Unbalanced X‐autosome translocation can result in various phenotypic manifestations. We present the first case of 46,X,der(X)t(X;8)(q28;q13) in a 34‐year‐old female with relatively mild manifestations, including congenital heart disease, epicanthal fold, mild intellectual disability, and menstrual i...

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Detalles Bibliográficos
Autores principales: Watanabe, Takafumi, Ishibashi, Makiho, Suganuma, Ryota, Ohara, Miki, Soeda, Shu, Komiya, Hiromi, Fujimori, Keiya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099023/
https://www.ncbi.nlm.nih.gov/pubmed/30147905
http://dx.doi.org/10.1002/ccr3.1596

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099023/
https://www.ncbi.nlm.nih.gov/pubmed/30147905
http://dx.doi.org/10.1002/ccr3.1596

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