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