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一名患有性发育障碍的女性体内的一条新生衍生Y染色体（Yq部分缺失以及Yp和Yq部分重复）

A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development.

作者信息

Liu Qing-Song, Zhu Xing-Chun, Ma Qiang, He Cheng, Shao Jian-Lan

机构信息

Department of Clinical Laboratory Affiliated Hospital of North Sichuan Medical College Nanchong Sichuan China.

Pathogenic Biology and Immunology Experiment Teaching Center North Sichuan Medical College Nanchong Sichuan China.

出版信息

Clin Case Rep. 2018 Jul 7;6(9):1671-1676. doi: 10.1002/ccr3.1613. eCollection 2018 Sep.

DOI:10.1002/ccr3.1613
PMID:30214739
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6132170/
Abstract

We report an atypical disorders of sex development (DSD) case with no mutation of SYR gene but partial Yq deletion and partial duplication of Yp and Yq. This case emphasizes duplicated region Yp11.2→Yq11.223 with partial deletion of Yq11.223→Yqter most probably perturbed the sex differentiation and led to female phenotype.

摘要

我们报告了一例性发育异常（DSD）非典型病例，该病例无SRY基因突变，但存在Yq部分缺失以及Yp和Yq部分重复。该病例强调Yp11.2→Yq11.223区域重复，同时Yq11.223→Yqter部分缺失，极有可能扰乱了性别分化并导致女性表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d92d/6132170/e841ad5e4e78/CCR3-6-1671-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d92d/6132170/dc0c91f165a3/CCR3-6-1671-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d92d/6132170/35204aa00338/CCR3-6-1671-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d92d/6132170/551f15150638/CCR3-6-1671-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d92d/6132170/e841ad5e4e78/CCR3-6-1671-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d92d/6132170/dc0c91f165a3/CCR3-6-1671-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d92d/6132170/35204aa00338/CCR3-6-1671-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d92d/6132170/551f15150638/CCR3-6-1671-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d92d/6132170/e841ad5e4e78/CCR3-6-1671-g004.jpg

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本文引用的文献

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Reprod Biomed Online. 2015 Aug;31(2):217-24. doi: 10.1016/j.rbmo.2015.04.014. Epub 2015 May 7.
2
45,X mosaicism with Y chromosome presenting female phenotype.
J Pediatr Surg. 2015 Jul;50(7):1220-3. doi: 10.1016/j.jpedsurg.2015.03.056. Epub 2015 May 7.
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46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma.46，XY女性性反转综合征伴双侧性腺母细胞瘤和无性细胞瘤。
Exp Ther Med. 2014 Oct;8(4):1102-1104. doi: 10.3892/etm.2014.1922. Epub 2014 Aug 19.
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Clinical and cytogenomic studies in a case of infertility associated with a nonmosaic dicentric Y chromosome.一例与非嵌合双着丝粒Y染色体相关的不孕症的临床和细胞基因组学研究
Andrologia. 2015 May;47(4):477-81. doi: 10.1111/and.12278. Epub 2014 Apr 2.
5
Delineating the association between isodicentric chromosome Y and infertility: a retrospective study.鉴定等臂染色体 Y 与不孕之间的关联：一项回顾性研究。
Fertil Steril. 2014 Apr;101(4):1091-6. doi: 10.1016/j.fertnstert.2013.12.048. Epub 2014 Feb 4.
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46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.46，XY性发育障碍及发育迟缓与一个包含NR5A1的9q33.3微缺失相关。
Eur J Med Genet. 2013 Nov;56(11):619-23. doi: 10.1016/j.ejmg.2013.09.006. Epub 2013 Sep 20.
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