Ring Chromosome 13 and Ambiguous Genitalia

被引：0
|
作者：
Ozsu, Elif [1 ]
Mutlu, Gul Yesiltepe [1 ]
Ipekci, Belkis [2 ]
机构：
[1] Kocaeli Univ, Fac Med, Dept Pediat Endocrinol & Diabet, Kocaeli, Turkey
[2] Kocaeli Univ, Sch Med, Dept Pediat, Kocaeli, Turkey
来源：
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY | 2014年 / 6卷 / 02期
关键词：
Chromosome; 13; sexual disorder; microcephaly;
D O I：
10.4274/jcrpe.1194
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Ambiguous genitalia, known to be associated with sex chromosome disorders, may also be seen with autosomal chromosome anomalies. Herein, we report a case with ambiguous genitalia and ring chromosome 13. Ring chromosome 13 is a rare genetic anomaly in which the loss of genetic material determines the clinical spectrum.
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收藏
页码：122 / 124
页数：3
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