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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Prif Awduron:	Takafumi Watanabe, Makiho Ishibashi, Ryota Suganuma, Miki Ohara, Shu Soeda, Hiromi Komiya, Keiya Fujimori
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Wiley 2018-08-01
Cyfres:	Clinical Case Reports
Pynciau:	8q13 trisomy unbalanced translocation X inactivation X‐autosome Xq28 monosomy
Mynediad Ar-lein:	https://doi.org/10.1002/ccr3.1596
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