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Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX.

作者信息

Vitek Wendy S, Pagidas Kelly, Gu Guangyu, Pepperell John R, Simpson Joe Leigh, Tantravahi Umadevi, Plante Beth J

机构信息

Department of Obstetric and Gynecology, Division of Reproductive Endocrinology & Infertility, Women & Infants Hospital of Rhode Island, Warren Alpert Medical School of Brown University, Providence, RI 02903, USA.

出版信息

J Assist Reprod Genet. 2012 Jan;29(1):63-6. doi: 10.1007/s10815-011-9653-2. Epub 2011 Nov 10.

DOI:10.1007/s10815-011-9653-2
PMID:22071885
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3252405/
Abstract
摘要

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Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX.卵巢早衰中的Xq；常染色体易位：Xq27.2缺失导致SPANX单倍剂量不足。
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本文引用的文献

1
Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.分子细胞遗传学定义与卵巢早衰相关的易位 t(X;15)。
Fertil Steril. 2010 Aug;94(3):1097.e5-8. doi: 10.1016/j.fertnstert.2010.02.013. Epub 2010 Mar 24.
2
Premature ovarian failure.卵巢早衰
Obstet Gynecol. 2009 Jun;113(6):1355-1363. doi: 10.1097/AOG.0b013e3181a66843.
3
Clinical practice. Primary ovarian insufficiency.临床实践。原发性卵巢功能不全。
N Engl J Med. 2009 Feb 5;360(6):606-14. doi: 10.1056/NEJMcp0808697.
4
Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure.一名患有46,X,del(X)(q21.31)和卵巢早衰的女性存在隐匿性Xp重复，包括SHOX基因。
Hum Reprod. 2008 Jan;23(1):222-6. doi: 10.1093/humrep/dem358. Epub 2007 Nov 1.
5
Hominoid-specific SPANXA/D genes demonstrate differential expression in individuals and protein localization to a distinct nuclear envelope domain during spermatid morphogenesis.类人猿特异性SPANXA/D基因在个体中表现出差异表达，并且在精子细胞形态发生过程中蛋白定位于一个独特的核膜区域。
Mol Hum Reprod. 2006 Nov;12(11):703-16. doi: 10.1093/molehr/gal079. Epub 2006 Sep 29.
6
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.Xq染色体重排与卵巢早衰：25例新病例的定位及文献综述
Hum Reprod. 2006 Jun;21(6):1477-83. doi: 10.1093/humrep/dei495. Epub 2006 Feb 23.
7
Spermatid-specific expression of the novel X-linked gene product SPAN-X localized to the nucleus of human spermatozoa.新的X连锁基因产物SPAN-X在精子细胞中的特异性表达定位于人类精子的细胞核。
Biol Reprod. 2000 Aug;63(2):469-81. doi: 10.1093/biolreprod/63.2.469.
8
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.先证者及其母亲的X染色体缺失（X）（q26.1→q28）：分子特征分析及表型-核型推断
Am J Hum Genet. 1993 Mar;52(3):463-71.
9
Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature.一名卵巢早衰患者X染色体与常染色体易位的分子和细胞遗传学研究及文献综述
Am J Med Genet. 1994 Aug 1;52(1):19-26. doi: 10.1002/ajmg.1320520105.
10
The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.人类女性中Xp和Xq缺失所导致的表型效应的相似性：一种假说。
Hum Genet. 1990 Jul;85(2):175-83. doi: 10.1007/BF00193192.