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

Zoi Russell, Eftichia V. Kontopoulos, Rubén A. Quintero, David M. Debauche, Judith D. Ranells

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)250-253
Number of pages4
JournalFetal Diagnosis and Therapy
Volume24
Issue number3
DOIs
StatePublished - Oct 1 2008

Fingerprint

Prenatal Diagnosis
Edema
Fetus
Polyhydramnios
Hydrops Fetalis
Amniocentesis
Amniotic Fluid
Fluorescence In Situ Hybridization
Karyotype
Chromosomes
Genotype
Newborn Infant
Phenotype
Chromosome 4q- Syndrome

Keywords

  • 4q deletion
  • 4q- syndrome
  • Chromosome 4
  • Hydrops fetalis
  • Terminal deletion

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Radiology Nuclear Medicine and imaging

Cite this

Russell, Z., Kontopoulos, E. V., Quintero, R. A., Debauche, D. M., & Ranells, J. D. (2008). Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops. Fetal Diagnosis and Therapy, 24(3), 250-253. https://doi.org/10.1159/000151671

Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops. / Russell, Zoi; Kontopoulos, Eftichia V.; Quintero, Rubén A.; Debauche, David M.; Ranells, Judith D.

In: Fetal Diagnosis and Therapy, Vol. 24, No. 3, 01.10.2008, p. 250-253.

Research output: Contribution to journalArticle

Russell, Z, Kontopoulos, EV, Quintero, RA, Debauche, DM & Ranells, JD 2008, 'Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops', Fetal Diagnosis and Therapy, vol. 24, no. 3, pp. 250-253. https://doi.org/10.1159/000151671
Russell Z, Kontopoulos EV, Quintero RA, Debauche DM, Ranells JD. Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops. Fetal Diagnosis and Therapy. 2008 Oct 1;24(3):250-253. https://doi.org/10.1159/000151671
Russell, Zoi ; Kontopoulos, Eftichia V. ; Quintero, Rubén A. ; Debauche, David M. ; Ranells, Judith D. / Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops. In: Fetal Diagnosis and Therapy. 2008 ; Vol. 24, No. 3. pp. 250-253.
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