Double autosomal trisomy (1q21.2----qter and 14pter----q13) in a female fetus with nuchal oedema

J P Fryns; A Kleczkowska; P Moerman; K van den Berghe; H van den Berghe

Double autosomal trisomy (1q21.2----qter and 14pter----q13) in a female fetus with nuchal oedema

Ann Genet. 1987;30(4):240-2.

Authors

J P Fryns¹, A Kleczkowska, P Moerman, K van den Berghe, H van den Berghe

Affiliation

¹ Center for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.

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.

MeSH terms

Abnormalities, Multiple / genetics*
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 14*
Edema
Female
Fetal Death
Humans
Karyotyping
Pregnancy
Translocation, Genetic
Trisomy*