[Complete Down's syndrome in a boy, formed by chromosomic mosaicism 46-XY isochromosome 21 and 47-XY, trisomy 21 with mosaicism of the mother 46-XX and 47-XX, trisomy 21)].
作者信息
Raichs A, Tamparillas M
出版信息
Sangre (Barc). 1967;12(1):71-80.
PMID:4235850
Abstract
摘要
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46,XX,t(15;21)/47,XX,15p-,+21 mosaicism in a child with Down's syndrome.
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A boy with trisomic Down's syndrome and a familial 5-?7 translocation, 47,XY,+21, t (5q-; ?7p+).一名患有三体性唐氏综合征且伴有家族性5;7易位的男孩，核型为47,XY,+21,t(5q-;7p+) 。
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The importance of chromosome analysis in Down's syndrome. A case report of a 21-21 translocation.
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[Mosaicism-trisomy in fathers of two children with Down's syndrome].[两个唐氏综合征患儿父亲的嵌合体-三体现象]
Acta Paediatr Acad Sci Hung. 1976;17(3):177-81.
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Karyotype variation and behavior in Down's syndrome: methodological review.唐氏综合征的核型变异与行为：方法学综述
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Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue.21三体的种系传递：来自80个家庭的数据表明高龄外祖母的影响以及女性特异性三体挽救的高频率。
Mol Cytogenet. 2010 Mar 18;3:7. doi: 10.1186/1755-8166-3-7.
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