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一例与等臂 Yp 相关的嵌合型克兰费尔特综合征病例。

A case of mosaic Klinefelter syndrome associated with isodicentric Yp.

作者信息

Tomomasa Hiroshi, Ogawa Kazue, Nagasawa Joji, Satoh Satoshi, Muramatsu Hiroshi, Iiyama Tetsuro, Okada Hiroshi

机构信息

Department of Urology, Ageo Central General Hospital, Saitama.

Department of Urology, Itabashi chuo Medical Center, Tokyo, and.

出版信息

Reprod Med Biol. 2008 Dec 7;7(4):177-180. doi: 10.1111/j.1447-0578.2008.00216.x. eCollection 2008 Dec.

DOI:10.1111/j.1447-0578.2008.00216.x
PMID:29690655
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5904573/
Abstract

We describe a case of mosaic Klinefelter syndrome demonstrating an isodicentric Y chromosome. A 70-year-old man visited our outpatient clinic complaining of dysuria resulting from atrophy of the penis. His height was 170 cm and his weight was 60 kg. A serum hormonal analysis revealed hypergonadotropic hypogonadism. A chromosomal analysis with fluorescence hybridization revealed four cell lines in which the karyotypes were 47,XXY, 46,XY, 46,XX and 47,XX,idic(Y) (q11.2). To the best of our knowledge this is the first case of mosaic Klinefelter syndrome bearing an isodicentric Y chromosome. The origin of the isodicentric Y is discussed. (Reprod Med Biol 2008; : 177-180).

摘要

我们描述了一例具有等臂双着丝粒Y染色体的嵌合型克兰费尔特综合征病例。一名70岁男性因阴茎萎缩导致排尿困难前来我院门诊就诊。他身高170厘米，体重60千克。血清激素分析显示高促性腺激素性性腺功能减退。荧光原位杂交染色体分析显示有四种细胞系，其核型分别为47,XXY、46,XY、46,XX和47,XX,idic(Y)(q11.2)。据我们所知，这是首例带有等臂双着丝粒Y染色体的嵌合型克兰费尔特综合征病例。文中讨论了等臂双着丝粒Y染色体的起源。(《生殖医学与生物学》2008年；:177 - 180)

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本文引用的文献

1
Delineation of an isodicentric Y chromosome in a mosaic 45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter) fetus by SRY sequencing, G-banding, FISH, SKY and study of distribution in different tissues.通过SRY测序、G显带、荧光原位杂交（FISH）、光谱核型分析（SKY）以及对不同组织分布的研究，确定一名45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter)嵌合型胎儿的等臂双着丝粒Y染色体。
J Formos Med Assoc. 2007 May;106(5):403-10. doi: 10.1016/S0929-6646(09)60327-2.
2
Phenotypic variability in isodicentric Y patients: study of nine cases.等臂Y染色体患者的表型变异性：9例病例研究
Clin Genet. 2006 Aug;70(2):145-50. doi: 10.1111/j.1399-0004.2006.00654.x.
3
Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.等臂双着丝粒Y短臂：12例产前诊断及结局
Prenat Diagn. 2006 Apr;26(4):324-9. doi: 10.1002/pd.1406.
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Patient with a non-mosaic isodicentric Yp and mild developmental delay.患有非嵌合等臂Yp且有轻度发育迟缓的患者。
Am J Med Genet A. 2005 Aug 30;137(2):223-4. doi: 10.1002/ajmg.a.30740.
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Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome.克氏综合征患者非嵌合等臂双着丝粒Y染色体的分子和细胞遗传学特征
Am J Med Genet A. 2005 Jan 15;132A(2):198-201. doi: 10.1002/ajmg.a.30446.
6
Cytogenetic and molecular characterization of two isodicentric Y chromosomes.两条等臂Y染色体的细胞遗传学和分子特征分析
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7
A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.一名核型为XXY/XX/XY的克氏综合征变异患者，通过GTG显带和荧光原位杂交技术进行研究。
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8
Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics.特纳综合征嵌合体和克氏综合征嵌合体中嵌合程度与综合征严重程度之间的关联。
Clin Genet. 1983 Dec;24(6):420-8. doi: 10.1111/j.1399-0004.1983.tb00097.x.

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