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

被引：10
|
作者：
Watanabe, Takafumi [1 ]
Ishibashi, Makiho [1 ]
Suganuma, Ryota [1 ]
Ohara, Miki [1 ]
Soeda, Shu [1 ]
Komiya, Hiromi [1 ]
Fujimori, Keiya [1 ]
机构：
[1] Fukushima Med Univ, Sch Med, Dept Obstet & Gynecol, Fukushima, Japan
来源：
CLINICAL CASE REPORTS | 2018年 / 6卷 / 08期
关键词：
8q13; trisomy; unbalanced translocation; X inactivation; X-autosome; Xq28; monosomy;
D O I：
10.1002/ccr3.1596
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：1561 / 1564
页数：4
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