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13号环状染色体与生殖器模糊。

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.

DOI:10.4274/Jcrpe.1194
PMID:24932608
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4141575/
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

两性畸形已知与性染色体疾病有关，也可见于常染色体异常。在此，我们报告一例患有两性畸形和13号环状染色体的病例。13号环状染色体是一种罕见的基因异常，其中遗传物质的丢失决定了临床谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d381/4141575/9663772addd3/JCRPE-6-122-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d381/4141575/9467a122042f/JCRPE-6-122-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d381/4141575/9663772addd3/JCRPE-6-122-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d381/4141575/9467a122042f/JCRPE-6-122-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d381/4141575/9663772addd3/JCRPE-6-122-g3.jpg

相似文献

1
Ring chromosome 13 and ambiguous genitalia.13号环状染色体与生殖器模糊。
J Clin Res Pediatr Endocrinol. 2014;6(2):122-4. doi: 10.4274/Jcrpe.1194.
2
A case of ring chromosome 13 with ambiguous genitalia and primary hypothyroidism.一例伴有生殖器模糊和原发性甲状腺功能减退的13号环状染色体病例。
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Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia.一名生殖器模糊婴儿的9号染色体臂间倒位
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Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition.一名患有多种先天性异常和阴茎阴囊转位的婴儿中的13号环状染色体。
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2
Mosaic Ring Chromosome 13 Presented with Isolated Male Infertility: Case Report.伴有孤立性男性不育的镶嵌型13号环状染色体：病例报告
Int J Fertil Steril. 2023 Apr 1;17(3):215-217. doi: 10.22074/ijfs.2022.548793.1262.
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[Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case].

本文引用的文献

1
A case of ring chromosome 13 with ambiguous genitalia and primary hypothyroidism.一例伴有生殖器模糊和原发性甲状腺功能减退的13号环状染色体病例。
Genet Couns. 2012;23(4):529-32.
2
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.
3
[The Dr phenotype: a study of threee cases with a ring D chromosome].[Dr 表型：三例具有环状 D 染色体病例的研究]
Ann Genet. 1968 Jun;11(2):79-87.
13号环状染色体综合征的临床及遗传学特征：1例病例分析
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jun;20(6):485-489. doi: 10.7499/j.issn.1008-8830.2018.06.011.
4
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。
J Med Genet. 1992 Oct;29(10):704-8. doi: 10.1136/jmg.29.10.704.