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

页码：1561 / 1564

页数：4

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