Open AccessMild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)
Author(s) -
Watanabe Takafumi,
Ishibashi Makiho,
Suganuma Ryota,
Ohara Miki,
Soeda Shu,
Komiya Hiromi,
Fujimori Keiya
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1596
Subject(s) - chromosomal translocation , x chromosome , phenotype , autosome , genetics , clinical phenotype , medicine , biology , gene
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.