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

Authors :
Watanabe, Takafumi
Ishibashi, Makiho
Suganuma, Ryota
Ohara, Miki
Soeda, Shu
Komiya, Hiromi
Fujimori, Keiya
Source :
Clinical Case Reports. Aug2018, Vol. 6 Issue 8, p1561-1564. 4p.
Publication Year :
2018

Abstract

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 disability, and menstrual irregularity. Our findings expand the known spectrum of unbalanced X‐autosome translocations, for improved clinical management. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20500904
Volume :
6
Issue :
8
Database :
Academic Search Index
Journal :
Clinical Case Reports
Publication Type :
Academic Journal
Accession number :
131320489
Full Text :
https://doi.org/10.1002/ccr3.1596