De novo Reciprocal Translocation t(5;11)(q22;p15) Associated with Hydrops Fetalis (Reciprocal Translocation and Hydrops Fetalis). (1st February 2015)

• Record Type: Journal Article
• Authors: Pala, Halil Gursoy; Artunc-Ulkumen, Burcu; Uyar, Yildiz; Bal, Filiz; Baytur, Yesim Bulbul; Koyuncu, Faik Mumtaz
• Is Part Of: Fetal and pediatric pathology. Volume 34:Number 1(2015)
• Page Start: 44
• Page End: 48
• Publication Date: 2015-02-01
• Subjects: Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.3109/15513815.2014.962196
• Languages: English
• ISSNs: 1551-3815

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p> <italic>Objective:</italic> 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. <italic>Case Report:</italic> 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). <italic>Conclusion:</italic> 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.</p> </abstract>