Holoprosencephaly in a fetus with a 46,XX,der(7), t(7;8)(q36.1;p12) mat karyotype

A Kleczkowska; J P Fryns; P Moerman; K Vandenberghe; H Van den Berghe

Holoprosencephaly in a fetus with a 46,XX,der(7), t(7;8)(q36.1;p12) mat karyotype

Ann Genet. 1990;33(2):111-2.

Authors

A Kleczkowska¹, J P Fryns, P Moerman, K Vandenberghe, H Van den Berghe

Affiliation

¹ Centre for Human Genetics, University of Leuven, Belgium.

PMID: 2241084

Abstract

In this report we present a female fetus with hemilobar holoprosencephaly and 46,XX,der(7)t(7;8)(q36.1;p12) mat karyotype. The holoprosencephaly-sequence is apparently related with the distal 7(q36.1----qter) deficiency.

Publication types

Case Reports

MeSH terms

Chromosome Aberrations / genetics*
Chromosome Deletion*
Chromosome Disorders
Chromosomes, Human, Pair 7 / ultrastructure*
Chromosomes, Human, Pair 8 / ultrastructure*
Female
Fetal Growth Retardation / diagnostic imaging
Fetal Growth Retardation / genetics
Fetus / abnormalities*
Humans
Pregnancy
Prenatal Diagnosis
Translocation, Genetic*
Ultrasonography