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

Key Clinical Message 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 disabi...

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Autori principali:	Takafumi Watanabe, Makiho Ishibashi, Ryota Suganuma, Miki Ohara, Shu Soeda, Hiromi Komiya, Keiya Fujimori
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2018-08-01
Serie:	Clinical Case Reports
Soggetti:	8q13 trisomy unbalanced translocation X inactivation X‐autosome Xq28 monosomy
Accesso online:	https://doi.org/10.1002/ccr3.1596
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