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兄弟姐妹中的艾维马克综合征。

Ivemark syndrome in siblings.

作者信息

Hurwitz R C, Caskey C T

出版信息

Clin Genet. 1982 Jul;22(1):7-11. doi: 10.1111/j.1399-0004.1982.tb01402.x.

Abstract

A family in which two brothers have the Ivemark syndrome is reported, thus bringing to eight the total number of families reported with multiple affected siblings. Study of 4059 autopsies, performed over 21 years at a major pediatric referral hospital, identified 32 cases of Ivemark syndrome. All were isolated occurrences in the families. One of six families which provided complete pedigree information was found to be consanguineous. This brings to four the number of reported consanguineous families with Ivemark syndrome. The male excess of affected with Ivemark syndrome is found both for the families with multiple affected siblings and for autopsy-identified cases. These data suggest a recessive inheritance of Ivemark syndrome with male predisposition.

摘要

本文报道了一个有两兄弟患艾维马克综合征的家庭,至此,报告中有多个患病兄弟姐妹的家庭总数达到了8个。在一家大型儿科转诊医院21年间进行的4059例尸检研究中,发现了32例艾维马克综合征病例。所有病例在家庭中均为散发病例。在提供完整家系信息的6个家庭中,有1个被发现是近亲结婚。这使得报告中有艾维马克综合征的近亲结婚家庭数量增至4个。在有多个患病兄弟姐妹的家庭以及尸检确诊的病例中,均发现艾维马克综合征患者男性多于女性。这些数据表明,艾维马克综合征为隐性遗传,男性更易患病。

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