14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies

D J Mertens; C E De Die-Smulders; P H Kampschöer; J P Offermans; J J Engelen; A J Hamers; M Lammens; C T Schrander-Stumpel

14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies

Genet Couns. 2000;11(4):341-6.

Authors

D J Mertens¹, C E De Die-Smulders, P H Kampschöer, J P Offermans, J J Engelen, A J Hamers, M Lammens, C T Schrander-Stumpel

Affiliation

¹ Department of Clinical Genetics, academic hospital Maastricht, The Netherlands.

PMID: 11140411

Abstract

A fetal patient presented at 27.3 weeks of gestation with polyhydramnion. Ultrasound examination showed enlarged cerebral ventricles, abnormal position of the fingers and abnormal external genitals. Chromosome studies in chorionic villus material were normal male: in cultured amniocytes a distal deletion 14q32 was demonstrated and confirmed by FISH analysis. The baby was born at 37 weeks and died spontaneously during labour. This is the first report of prenatal diagnosis of a terminal 14q deletion.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / diagnostic imaging
Abnormalities, Multiple / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 14*
Cytogenetic Analysis
Fetal Death
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Male
Prenatal Diagnosis
Ultrasonography