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Fetal Diagn Ther. 2008;24(3):250-3. doi: 10.1159/000151671. Epub 2008 Sep 2.

Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops.

Author information

  • 1Department of Obstetrics and Gynecology, Maternal Fetal Medicine Division, University of South Florida, Tampa, Florida, USA. zoika1@yahoo.com

Abstract

OBJECTIVE:

The 4q- syndrome comprises all microscopically visible deletions of the long arm of chromosome 4. Cases with 4q deletions represent a diverse group that share several phenotypic characteristics. We report the prenatal diagnosis of an isolated terminal 4q33 deletion in a fetus with hydrops.

METHOD:

A comprehensive workup, including an amniocentesis, was performed on a 32-week fetus presenting with massive hydrops and polyhydramnios.

RESULTS:

The karyotype obtained from the amniotic fluid showed an unusual banding pattern on chromosome 4q. Fluorescent in situ hybridization revealed a 4q33-qter deletion. The proband shared several of the phenotypic characteristics of the 4q- syndrome. Multidisciplinary evaluation of the newborn confirmed the genotype and failed to identify another cause for the hydrops.

CONCLUSION:

We suggest that the broad spectrum of phenotypes expressed by patients with terminal 4q33 deletions includes hydrops fetalis.

Copyright 2008 S. Karger AG, Basel.

PMID:
18765938
[PubMed - indexed for MEDLINE]
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