Double autosomal trisomy (1q21.2----qter and 14pter----q13) in a female fetus with nuchal oedema.
作者信息
Fryns J P, Kleczkowska A, Moerman P, van den Berghe K, van den Berghe H
机构信息
Center for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
出版信息
Ann Genet. 1987;30(4):240-2.
PMID:3501268
Abstract
In this report we describe the prenatal diagnosis of a double autosomal trisomy (1q21.2----qter and 14pter----q13) in a female fetus with nuchal oedema, microphthalmia of the left eye and craniofacial dysmorphism. Cytogenetic examination of the parents revealed an autosomal reciprocal 1q/14q translocation with karyotype: 46,XX,t(1;14)(q21.2;q13) in the mother.
摘要
Zotero 插件