特纳综合征的症状及X染色体长臂间质性异染色质（i(Xq)）
Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq).
作者信息
Yanagisawa S, Yokoyama H
出版信息
Clin Genet. 1975 Apr;7(4):299-303. doi: 10.1111/j.1399-0004.1975.tb00332.x.
Abstract
A girl is presented with "isochromosome" X mosaicism, 45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq). The "isochromosome" had an unusual extra band close to the centromere on one arm. The patient had some signs of Turner's syndrome, myopia and optic nerve atrophy.
摘要
一名女孩表现出“等臂染色体”X 嵌合体，核型为45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq)。该“等臂染色体”在一条臂的着丝粒附近有一条异常的额外带。患者有一些特纳综合征的体征、近视和视神经萎缩。
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