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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Bibliographic Details
Main Authors: Takafumi Watanabe, Makiho Ishibashi, Ryota Suganuma, Miki Ohara, Shu Soeda, Hiromi Komiya, Keiya Fujimori
Format: Artigo
Language:Inglês
Published: Wiley 2018-08-01
Series:Clinical Case Reports
Subjects:
8q13 trisomy
unbalanced translocation
X inactivation
X‐autosome
Xq28 monosomy
Online Access:https://doi.org/10.1002/ccr3.1596
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