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特纳综合征与46,X,i(Yq)核型

Turner's syndrome and 46,X,i(Yq) karyotype.

作者信息

Magnelli N C, Vianna-Morgante A M, Frota-Pessoa O, Taboada-Lopez M G

出版信息

J Med Genet. 1974 Dec;11(4):403-6. doi: 10.1136/jmg.11.4.403.

Abstract

A patient with features of Turner's syndrome is reported. In her karyotype there were 46 chromosomes including 15 chromosomes in the C group and one metacentric marker the size of a No. 16. This marker was identified through its fluorescence pattern as being an isochromosome for the long arm of the Y. This observation strongly suggests that the male determining factors are situated on the short arm of the Y chromosome.

摘要

报告了一名具有特纳综合征特征的患者。其核型中有46条染色体,包括C组中的15条染色体和一条大小与16号染色体相同的中着丝粒标记染色体。通过其荧光模式鉴定该标记染色体为Y染色体长臂的等臂染色体。这一观察结果有力地表明,男性决定因素位于Y染色体的短臂上。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c4e/1013219/d493ee6470d6/jmedgene00321-0087-a.jpg

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