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一对具有相同核型的兄妹：两例患有部分3p重复和部分9p缺失以及性反转的同胞病例报告。

A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal.

作者信息

Cordes Selby Susan, Iwata-Otsubo Aiko, Delk Paula, Nebesio Todd D, Gohil Anisha, Matlock Peggy, Torres-Martinez Wilfredo, Vance Gail H

机构信息

Community Health Network, Maternal-Fetal Medicine Indianapolis IN USA.

Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.

出版信息

Clin Case Rep. 2021 May 6;9(5):e04141. doi: 10.1002/ccr3.4141. eCollection 2021 May.

DOI:10.1002/ccr3.4141
PMID:34026173
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8136447/
Abstract

Two siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a male gender. The female had gonadal dysgenesis with bilateral ovatestes. The male had bilateral testes. The report discusses the phenotypical differences and genes associated with sex reversal.

摘要

两名具有相同男性不平衡核型的兄弟姐妹出现了性反转。年长的兄弟姐妹表型为女性，而年幼的兄弟姐妹表现为男性。女性患有性腺发育不全，双侧为卵睾。男性有双侧睾丸。该报告讨论了与性反转相关的表型差异和基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5878/8136447/af64a968129c/CCR3-9-e04141-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5878/8136447/af64a968129c/CCR3-9-e04141-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5878/8136447/af64a968129c/CCR3-9-e04141-g001.jpg

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本文引用的文献

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DMRT1 repression using a novel approach to genetic manipulation induces testicular dysgenesis in human fetal gonads.采用一种新的遗传操作方法抑制 DMRT1 可诱导人胎儿睾丸中的睾丸发育不全。
Hum Reprod. 2018 Nov 1;33(11):2107-2121. doi: 10.1093/humrep/dey289.
2
An ancient protein-DNA interaction underlying metazoan sex determination.后生动物性别决定背后的一种古老的蛋白质 - DNA 相互作用。
Nat Struct Mol Biol. 2015 Jun;22(6):442-51. doi: 10.1038/nsmb.3032. Epub 2015 May 25.
3
A patient with a duplication of chromosome 3p (p24.1p26.2): a comparison with other partial 3p trisomies.
一名3号染色体短臂（p24.1p26.2）重复的患者：与其他部分3号染色体短臂三体病例的比较。
Am J Med Genet A. 2014 Feb;164A(2):548-50. doi: 10.1002/ajmg.a.36164. Epub 2013 Dec 5.
4
9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.9p 部分单体性和性发育障碍：发病机制的综述和推测。
Am J Med Genet A. 2013 Aug;161A(8):1882-96. doi: 10.1002/ajmg.a.36018. Epub 2013 Jul 3.
5
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.通过多重连接依赖性探针扩增技术（MLPA）对影响性别反转候选区域和 9p 缺失综合征的 9p 缺失进行特征分析。
Eur J Hum Genet. 2009 Nov;17(11):1439-47. doi: 10.1038/ejhg.2009.70. Epub 2009 May 6.
6
Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.10例9号染色体短臂末端缺失患者的详细特征及临床相关性
Genet Med. 2008 Aug;10(8):599-611. doi: 10.1097/gim.0b013e31817e2bde.
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