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威尔逊氏病(肝豆状核变性)纯合子与杂合子的皮纹学(作者译)

[Dermatoglyphics of homo- and heterozygotes for Wilson's disease (hepatolenticular degeneration) (author's transl)].

作者信息

Vormittag W, Weninger M, Willvonseder R, Wewalka F

出版信息

Hum Genet. 1976 Feb 29;31(2):211-8. doi: 10.1007/BF00296148.

Abstract

Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the turn over rates of Cu-67, 12 under the assumption of autosomal recessive inheritance. On the finger tips the Mb. Wilson patients showed 52.7% whorls, their heterozygous relatives about 40%; compared with our controls (males 33.16%, females 28.82%, Aue-Hauser, 1970) that means a strong increase of this pattern type. On the palm the high frequency of hypothenar patterns in homo- and heterozygotes for Wilson's disease and of loops with accessory triradius in the 4th interdigitum of the patients with Wilson's disease was striking.

摘要

对11例威尔逊氏病患者及其16名临床上无症状的一级亲属的皮纹进行了研究;根据铜-67的周转率,其中11名亲属为杂合子,在常染色体隐性遗传的假设下有12名。在指尖上,威尔逊氏病患者有52.7%为涡纹,其杂合子亲属约为40%;与我们的对照组(男性33.16%,女性28.82%,奥伊-豪泽,1970年)相比,这意味着这种纹型的频率大幅增加。在手掌上,威尔逊氏病纯合子和杂合子小鱼际纹型的高频率以及威尔逊氏病患者第4指蹼间有副三叉点的箕纹的高频率引人注目。

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