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De novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis).
- Source :
-
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2015 Feb; Vol. 34 (1), pp. 44-8. Date of Electronic Publication: 2014 Oct 07. - Publication Year :
- 2015
-
Abstract
- Objective: This is a case of a prenatally diagnosed non-immune hydrops fetalis (NIHF) associated with translocation t(5;11)(q22;p15). An association between NIHF and this translocation has not been reported previously.<br />Case Report: The patient was referred to the perinatology clinic with hydrops fetalis diagnosis at 23 weeks' gestation. We noted that the fetus had bilateral pleural effusion, ascites, widespread subcutaneous edema, membranous ventricular septal defect, hypoplastic fifth finger middle phalanx, clinodactyly, single umbilical artery. We performed cordocentesis. Chromosomal analysis on blood showed a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 11 with karyotype of 46,XX,t(5;11)(q22;p15).<br />Conclusion: We present prenatal diagnosis of a de novo translocation (5;11) in a hydropic fetus with ultrason abnormalities. In our case, karyotype analysis of the fetus, mother and father provided evidence of a de novo translocation, that might explain the NIHF.
- Subjects :
- Adult
Ascites genetics
Chromosomes, Human, Pair 11 ultrastructure
Chromosomes, Human, Pair 5 ultrastructure
Cordocentesis
Female
Fetal Death
Gestational Age
Humans
Karyotyping
Male
Pleural Effusion genetics
Pregnancy
Prenatal Diagnosis
Chromosome Aberrations
Hydrops Fetalis genetics
Translocation, Genetic
Subjects
Details
- Language :
- English
- ISSN :
- 1551-3823
- Volume :
- 34
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Fetal and pediatric pathology
- Publication Type :
- Academic Journal
- Accession number :
- 25289481
- Full Text :
- https://doi.org/10.3109/15513815.2014.962196