Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?

被引：15

作者：

Guichet, A ^{[1
]}

Briault, S ^{[1
]}

LeMerrer, M ^{[1
]}

Moraine, C ^{[1
]}

机构：

[1] HOP NECKER ENFANTS MALAD,SERV GENET MED,F-75743 PARIS 15,FRANCE

来源：

CLINICAL DYSMORPHOLOGY | 1997年 / 6卷 / 04期

关键词：

X-Y-translocation; Madelung deformity;

D O I：

10.1097/00019605-199710000-00007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a female with a de novo 46,X,der(X)t(X;Y) (p22;q12) translocation who presented with short stature, mild clinical features of Turner syndrome and a Madelung deformity. It appears that some particular radiological and/or clinical skeletal features are common in females carrying X-Y translocations. Based on the corresponding papers and on clinical findings of our patient we discuss the significance of Madelung deformity encountered in X-Y translocations, dyschondrosteosis and Turner syndrome.

引用

页码：341 / 345

页数：5

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