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 language | English (US) |
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Pages (from-to) | 250-253 |
Number of pages | 4 |
Journal | Fetal Diagnosis and Therapy |
Volume | 24 |
Issue number | 3 |
DOIs | |
State | Published - Oct 2008 |
Externally published | Yes |
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