Turner phenotype: mosaic 45,X-47,XY, plus 18.
作者信息
Schinzel A, Schmid W, Prader A
出版信息
J Med Genet. 1974 Mar;11(1):101-4. doi: 10.1136/jmg.11.1.101.
Abstract
A 14-year-old girl with Turner phenotype is described, whose lymphocyte and skin fibroblast cultures both revealed a 45,X/47,XY,+18 chromosomal mosaicism. In blood cultures one third and in fibroblasts 7% of the cells had 47 chromosomes. The identity of the Y and the supernumerary 18 were determined by fluorescence and Giemsa banding patterns. The patient is of normal intelligence and does not exhibit any signs of masculinization or stigmata of trisomy 18.
摘要
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引用本文的文献
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本文引用的文献
1
[Sex chromatine determination from roots of hair].[毛发根部性染色质测定]
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Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents.借助DNA结合荧光剂对人类中期染色体组进行分析。
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Parental mosaicism in trisomy 18.18三体综合征中的亲代嵌合体。
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[Mosaicism 45, X-47, XY,+21].
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Am J Hum Genet. 1971 Nov;23(6):592-601.
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