Congenital heart disease in an infant with 49,XXXXY syndrome

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dc.contributor.authorArgun, Mustafa
dc.contributor.authorAkin, Mustafa Ali
dc.contributor.authorKurtoglu, Selim
dc.contributor.authorSarıca, Dilek
dc.contributor.authorÖzyurt, Abdullah
dc.contributor.authorPamukcu, Özge
dc.contributor.authorBaykan, Ali
dc.date.accessioned2020-06-04T06:19:46Z
dc.date.available2020-06-04T06:19:46Z
dc.date.issued2014-05-06
dc.description.abstract49,XXXXY syndrome which is characterized with the addition of three extra X chromosomes to 46,XY is the rarest sex chromosome aneuploidy syndrome. Its classical findings were defined as a triad of mental retardation, hypogonadism and radioulnar synostosis. In 49,XXXXY syndrome, congenital heart defects like patent ductus arteriosus, atrial septal defect, ventricular septal defect, pulmonary stenosis, Fallot’s tetralogy have been reported. We present a case diagnosed in the newborn stage with low birth weight, short stature, dysmorphic craniofacial findings and hypoplastic male genitalia who was found to have severe pulmonary hypertension and medium patent ductus arteriosus when admitted at 4 months of age with heart failure and who underwent transcathater ductus closure with Amplatzer Duct Occluder I. To our knowledge, our case is the first reported 49,XXXXY syndrome with patent ductus arteriosus closed with the transcathater route.tr_TR
dc.description.abstract49,XXXXY sendromu, 46,XY’ye ekstra üç X kromozomu eklenmesi ile karakterize nadir görülen cinsiyet kromozom anöploidi hastalığıdır. Klasik bulguları mental retardasyon, hipogonadizm, radioulnar sinostozis triadı olarak tanımlanmıştır. 49,XXXXY sendromunda patent duktus arteriozus, atriyal septal defekt, ventrikuler septal defekt, pulmoner stenoz, Fallot tetralojisi gibi konjenital kalp defektleri bildirilmiştir. Yenidoğan döneminde düşük doğum ağırlığı, kısa boy, dismorfik kraniyofasiyal bulgular ve hipoplastik erkek genitalya ile tanısını koyduğumuz ve 4 aylık iken kalp yetersizliği kliniği ile kabul edildiğinde ciddi pulmoner hipertansiyonu ve orta büyüklükte patent duktus artriyozusu saptanarak, duktusu transkateter Amplatzer Duktal Okluder I ile kapattığımız olguyu sunuyoruz. Bildiğimiz kadarıyla bu olgu patent duktus artiyozusu transkateter kapatılan ilk 49,XXXXY sendromudur.tr_TR
dc.identifier.citationArgun, M. vd. (2015). "Congenital heart disease in an infant with 49,XXXXY syndrome". Güncel Pediatri, 13(1), 63-67.tr_TR
dc.identifier.endpage67tr_TR
dc.identifier.issn1304-9054
dc.identifier.issn1308-6308
dc.identifier.issue1tr_TR
dc.identifier.startpage63tr_TR
dc.identifier.urihttps://dergipark.org.tr/tr/download/article-file/903776
dc.identifier.urihttp://hdl.handle.net/11452/11012
dc.identifier.volume13tr_TR
dc.language.isoenen
dc.publisherUludağ Üniversitesitr_TR
dc.relation.journalGüncel Pediatri / The Journal of Current Pediatricstr_TR
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject49tr_TR
dc.subjectXXXXY syndrometr_TR
dc.subjectCongenital heart diseaseen_US
dc.subjectTranscathater ductus closureen_US
dc.subjectXXXXY sendromutr_TR
dc.subjectKonjenital kalp hastalığıtr_TR
dc.subjectTranskateter duktus kapatmatr_TR
dc.titleCongenital heart disease in an infant with 49,XXXXY syndromeen_US
dc.title.alternative49,XXXXY sendromlu bir çocukta konjenital kalp hastalığıtr_TR
dc.typeArticleen_US

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2015 Cilt 13 Sayı 1