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基于人群的登记系统中腹裂的家族性病例。

Familial cases of gastroschisis in a population-based registry.

作者信息

Torfs C P, Curry C J

机构信息

California Birth Defects Monitoring Program, Emeryville 94608.

出版信息

Am J Med Genet. 1993 Feb 15;45(4):465-7. doi: 10.1002/ajmg.1320450414.

Abstract

Only a few familial cases of gastroschisis have been reported. Consequently, the risk of a recurrence has been thought to be very small. In a population-based study of gastroschisis that included an extended pedigree of all probands, 6 (4.7%) out of 127 families had more than one affected relative. The relationships of the affected were: sib, half-sib (2), first cousin, second cousin once removed, and great uncle. Sib recurrence was 3.5%. Our results suggest that pregnancies occurring in a family with a history of gastroschisis may be at higher risk of recurrence than previously thought.

摘要

仅有少数腹裂的家族病例被报道。因此,人们认为复发风险非常小。在一项基于人群的腹裂研究中,该研究纳入了所有先证者的扩展家系,127个家族中有6个(4.7%)有不止一名患病亲属。受影响亲属之间的关系为:同胞、同父异母或同母异父的兄弟姐妹(2例)、第一代堂亲、隔一代的第二代堂亲以及叔祖父。同胞复发率为3.5%。我们的研究结果表明,有腹裂病史的家庭中发生的妊娠复发风险可能比之前认为的更高。

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