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


METHODS
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.


CONCLUSIONS
We suggest that the broad spectrum of phenotypes expressed by patients with terminal 4q33 deletions includes hydrops fetalis.
Russell
Zoi
Z
Department of Obstetrics and Gynecology, Maternal Fetal Medicine Division, University of South Florida, Tampa, Florida, USA. zoika1@yahoo.com
Kontopoulos
Eftichia V
EV
Quintero
Rubén A
RA
DeBauche
David M
DM
Ranells
Judith D
JD