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核型为48xxy+21一病例的细胞遗传学分析
引用本文:朱燕祥,贾玉珩,王佑举.核型为48xxy+21一病例的细胞遗传学分析[J].河北大学学报(自然科学版),1990(2).
作者姓名:朱燕祥  贾玉珩  王佑举
作者单位:河北大学生物系 (朱燕祥,贾玉珩),河北大学生物系(王佑举)
摘    要:本文在国内首次报导了一例在先天愚型中具有先天性睾丸发育不全的病例,经细胞遗传学检查证明了其核型为48,xxy+21,体检表明患者表现为典型的Down氏综合征,同时具有KLinefeltern综合征的某些症状;但由于患者年幼性发育尚未成熟,临床症状未完全表现出来,本文同时分析了异常核型产生的原因。

关 键 词:先天愚型综合征  先天性睾丸发育不全综合征

Rcport of a Case on 48, xxy+21 Karyotypc with Cgtogcnctic Analysis
Zhu Yanxiang Jia Yuheng Wang Youjn.Rcport of a Case on 48, xxy+21 Karyotypc with Cgtogcnctic Analysis[J].Journal of Hebei University (Natural Science Edition),1990(2).
Authors:Zhu Yanxiang Jia Yuheng Wang Youjn
Institution:Department of Biology
Abstract:In this paper, a case of illness for congenital hypoplasia of testis in cangcnital stupid-type was rcparted at first in China.Cytogcnctie test by chromosome analysis shown that his karyotype is 48xxy+21.Typical characteristic of Down's syndrome and some symptoms of Klinefeltcris Symdrome were cxprcssioncd by clinical inspection on suffercr.Owing to the sufferer is infant and too early in life.All clinical sympton is yet appcarence. Produced cause of abnormal karyotype was discussed also.
Keywords:Down' s syndrome  Klincfcltcris symdrome  
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