De novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis)
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Date
2015
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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.; 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).; 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. © 2015 Informa Healthcare USA, Inc.
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Keywords
Adult , Ascites , Chromosome Aberrations , Chromosomes, Human, Pair 11 , Chromosomes, Human, Pair 5 , Cordocentesis , Female , Fetal Death , Gestational Age , Humans , Hydrops Fetalis , Karyotyping , Male , Pleural Effusion , Pregnancy , Prenatal Diagnosis , Translocation, Genetic , adult , Article , ascites , case report , chromosome 11 , chromosome 5 , chromosome analysis , chromosome arm , clinodactyly , cordocentesis , edema , female , fetus , fetus hydrops , gestational age , heart ventricle septum defect , human , karyotype 46,XX , phalanx hypoplasia , pleura effusion , prenatal diagnosis , reciprocal chromosome translocation , single umbilical artery , ascites , chromosome aberration , fetus death , fetus hydrops , gene translocation , genetics , karyotyping , male , pleura effusion , pregnancy , ultrastructure