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 |
|---|---|
| Pages (from-to) | 250-253 |
| Number of pages | 4 |
| Journal | Fetal Diagnosis and Therapy |
| Volume | 24 |
| Issue number | 3 |
| DOIs | |
| State | Published - Oct 1 2008 |
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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
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 journal › Article
}
TY - JOUR
T1 - Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops
AU - Russell, Zoi
AU - Kontopoulos, Eftichia V.
AU - Quintero, Rubén A.
AU - Debauche, David M.
AU - Ranells, Judith D.
PY - 2008/10/1
Y1 - 2008/10/1
N2 - 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.
AB - 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.
KW - 4q deletion
KW - 4q- syndrome
KW - Chromosome 4
KW - Hydrops fetalis
KW - Terminal deletion
UR - http://www.scopus.com/inward/record.url?scp=50549092960&partnerID=8YFLogxK
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U2 - 10.1159/000151671
DO - 10.1159/000151671
M3 - Article
VL - 24
SP - 250
EP - 253
JO - Fetal Diagnosis and Therapy
JF - Fetal Diagnosis and Therapy
SN - 1015-3837
IS - 3
ER -