Y染色体非整倍体：一例48,XYYY核型男性患者的进一步病例及文献综述
Y aneuploidy: a further case of a male patient with a 48,XYYY karyotype and literature review.
作者信息
Mazauric-Stüker M, Kordt G, Brodersen D
机构信息
Abt für Klinische Humangenetik, Ruhr-Universität Bochum, Germany.
出版信息
Ann Genet. 1992;35(4):237-40.
PMID:1296523
Abstract
An adult male with three Y chromosomes is reported. The patient showed some clinical features similar to those of Klinefelter's syndrome. This case represents the 6th instance described in the literature of a 48,XYYY karyotype without recognizable mosaicism. The authors compare the clinical symptoms with those of the five previously reported cases.
摘要
据报道，有一名成年男性带有三条Y染色体。该患者表现出一些与克兰费尔特综合征相似的临床特征。此病例是文献中描述的第6例48,XYYY核型且无可识别嵌合体的病例。作者将该临床症状与之前报道的5例病例的症状进行了比较。
相似文献
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[Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy].[48,XYYY核型的性染色体畸变。罕见性染色体非整倍体表型的病例报告]
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[48,XXYY syndrome in a boy with essential tremor. Comparison with 120 cases from the literature].[一名患有特发性震颤男孩的48,XXYY综合征。与文献中120例病例的比较]
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Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases.Y染色体非整倍体的表型/核型相关性，重点关注产后诊断病例中的结构畸变。
Am J Med Genet. 1994 Nov 1;53(2):108-40. doi: 10.1002/ajmg.1320530204.
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Peculiar mosaicism 47,XYY/48,XYYY/49,XYYYY in man.人类中罕见的47,XYY/48,XYYY/49,XYYYY嵌合体。
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