Ring chromosome 13 and ambiguous genitalia.
作者信息
Ozsu Elif, Yeşiltepe Mutlu Gül, Ipekçi Belkıs
机构信息
Kocaeli University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Kocaeli, Turkey. E-ma-il:
出版信息
J Clin Res Pediatr Endocrinol. 2014;6(2):122-4. doi: 10.4274/Jcrpe.1194.
Abstract
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.
摘要
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本文引用的文献
1
A case of ring chromosome 13 with ambiguous genitalia and primary hypothyroidism.
Genet Couns. 2012;23(4):529-32.
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Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.
Am J Med Genet. 1997 Oct 31;72(3):319-23.
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Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.13号环状染色体：基于13q不同断点缺乏独特综合征。
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