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
Descripción
Sumario: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 irregularity. Our findings expand the known spectrum of unbalanced X‐autosome translocations, for improved clinical management.

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