一个有五名患病成员的家庭中小耳畸形和外耳道闭锁的遗传情况。

Inheritance of microtia and aural atresia in a family with five affected members.

作者信息

Zankl M, Zang K D

出版信息

Clin Genet. 1979 Nov;16(5):331-4. doi: 10.1111/j.1399-0004.1979.tb01011.x.

DOI:10.1111/j.1399-0004.1979.tb01011.x

PMID:519905

Abstract

Only a few reports of congenital meatal atresia and microtia have been published. Dominant as well as recessive inheritance has been suggested. We report a family with five affected members in two generations. An irregularly dominant transmission seems to be the most likely explanation.

摘要

仅有少数关于先天性尿道口闭锁和小耳畸形的报告发表。已有研究表明其遗传方式为显性和隐性遗传。我们报告了一个两代中有五名患病成员的家族。最可能的解释似乎是不规则显性遗传。