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.
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).
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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