Prenatal Diagnosis of a 4q33–4qter Deletion in a Fetus with HydropsRussell Z. · Kontopoulos E.V. · Quintero R.A. · DeBauche D.M. · Ranells J.D.
aMaternal Fetal Medicine Division, Department of Obstetrics and Gynecology, University of South Florida, bGenzyme Genetics, cDivision of Genetics, Department of Pediatrics, University of South Florida, Tampa, Fla., USA
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.
2A Columbia Drive, 6th Floor
Tampa, FL 33606 (USA)
Tel. +1 813 394 2280, Fax +1 813 259 0827
Received: April 18, 2007
Accepted after revision: June 13, 2007
Published online: September 2, 2008
Number of Print Pages : 4
Number of Figures : 3, Number of Tables : 1, Number of References : 24
Fetal Diagnosis and Therapy (Clinical Advances and Basic Research)
Vol. 24, No. 3, Year 2008 (Cover Date: October 2008)
Journal Editor: Holzgreve W. (Basel), Evans M.I. (New York, N.Y.), Uzan S. (Paris), Michejda M. (Washington, D.C.), Pringle K.C. (Wellington)
ISSN: 1015–3837 (Print), eISSN: 1421–9964 (Online)
For additional information: http://www.karger.com/FDT