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携带13 - 15/21易位染色体的父亲及患唐氏综合征的儿子。

A 13-15/21 translocation chromosome in carrier father and mongol son.

作者信息

SERGOVICH F R, SOLTAN H C, CARR D H

出版信息

Can Med Assoc J. 1962 Oct 20;87(16):852-8.

Abstract

Cytogenetic and dermatoglyphic features were studied in a family in which the mongoloid propositus inherited a 13-15/21 translocation chromosome from his father. Seven other healthy male carriers scattered throughout the pedigree produced nine chromosomally normal children and five carrier children in addition to the mongoloid propositus. These results show that carrier males do not necessarily produce an unusually large proportion of carrier children as previous reports would indicate. Dermatoglyphic studies showed that translocation carriers in this family have neither significantly more centralized nor less centralized palmar axial triradii than non-carrier relatives. No direct evidence was therefore found for the hypothesis that an allele is present on chromosome 21 which influences the height of the triradius.

摘要

对一个家庭的细胞遗传学和皮纹特征进行了研究,在这个家庭中,患唐氏综合征的先证者从他父亲那里继承了一条13 - 15/21易位染色体。在整个家系中分布的其他7名健康男性携带者,除了患唐氏综合征的先证者外,还生育了9名染色体正常的孩子和5名携带者孩子。这些结果表明,携带者男性不一定会像之前报道所显示的那样,生育出比例异常高的携带者孩子。皮纹研究表明,这个家庭中的易位携带者与非携带者亲属相比,手掌轴三叉点既没有明显更集中,也没有明显更分散。因此,没有找到直接证据支持21号染色体上存在一个影响三叉点高度的等位基因这一假说。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1746/1849705/c428f771dc3d/canmedaj00966-0028-a.jpg

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