De novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis)

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dc.contributor.authorPala H.G.
dc.contributor.authorArtunc-Ulkumen B.
dc.contributor.authorUyar Y.
dc.contributor.authorBal F.
dc.contributor.authorBaytur Y.B.
dc.contributor.authorKoyuncu F.M.
dc.date.accessioned2024-07-22T08:13:44Z
dc.date.available2024-07-22T08:13:44Z
dc.date.issued2015
dc.description.abstractObjective: 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.
dc.identifier.DOI-ID10.3109/15513815.2014.962196
dc.identifier.issn15513815
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/16382
dc.language.isoEnglish
dc.publisherInforma Healthcare
dc.subjectAdult
dc.subjectAscites
dc.subjectChromosome Aberrations
dc.subjectChromosomes, Human, Pair 11
dc.subjectChromosomes, Human, Pair 5
dc.subjectCordocentesis
dc.subjectFemale
dc.subjectFetal Death
dc.subjectGestational Age
dc.subjectHumans
dc.subjectHydrops Fetalis
dc.subjectKaryotyping
dc.subjectMale
dc.subjectPleural Effusion
dc.subjectPregnancy
dc.subjectPrenatal Diagnosis
dc.subjectTranslocation, Genetic
dc.subjectadult
dc.subjectArticle
dc.subjectascites
dc.subjectcase report
dc.subjectchromosome 11
dc.subjectchromosome 5
dc.subjectchromosome analysis
dc.subjectchromosome arm
dc.subjectclinodactyly
dc.subjectcordocentesis
dc.subjectedema
dc.subjectfemale
dc.subjectfetus
dc.subjectfetus hydrops
dc.subjectgestational age
dc.subjectheart ventricle septum defect
dc.subjecthuman
dc.subjectkaryotype 46,XX
dc.subjectphalanx hypoplasia
dc.subjectpleura effusion
dc.subjectprenatal diagnosis
dc.subjectreciprocal chromosome translocation
dc.subjectsingle umbilical artery
dc.subjectascites
dc.subjectchromosome aberration
dc.subjectfetus death
dc.subjectfetus hydrops
dc.subjectgene translocation
dc.subjectgenetics
dc.subjectkaryotyping
dc.subjectmale
dc.subjectpleura effusion
dc.subjectpregnancy
dc.subjectultrastructure
dc.titleDe novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis)
dc.typeArticle

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