A newborn with trisomy 13 who had tetralogy of Fallot and metopic synostosis: Case report

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dc.contributor.authorKarabel, M.
dc.contributor.authorYolbas, I
dc.contributor.authorKelekci, S.
dc.contributor.authorSen, V
dc.contributor.authorHaspolat, Y. K.
dc.contributor.authorTimuroglu, L.
dc.date.accessioned2024-04-24T17:33:11Z
dc.date.available2024-04-24T17:33:11Z
dc.date.issued2013
dc.departmentDicle Üniversitesien_US
dc.description.abstractBackground and Aim: Trisomy 13 (Patau syndrome) was first described by Patau et al in 1960. It is characterized by serious head, facial, and extremity anomalies, congenital heart defects, and mental abnormalities. The incidence rate of Trisomy 13 is 1/10.000 live births. Accompanying symptoms and findings vary in rate and severity among the cases. Tetralogy of Fallot and metopic synostosis are very rare abnormalities in patients with Trisomy 13. In this study, we aimed to present a newborn girl with trisomy 13 who had multiple congenital malformations accompanied by tetralogy of Fallot and metopic synostosis. Description of the case: The patient was delivered at 40 weeks of gestation, and admitted to the neonatal intensive care unit due to respiratory distress and physical abnormalities. The newborn examination revealed multiple dysmorphic features. She had boot-shaped appearance on the chest radiograph. Chromosome analysis demonstrated mosaic trisomy 13. Conclusion: Patients with trisomy 13 may have different type of gene variations and malformations; however, the most common type of gene variation is classic trisomy 47, XX + 13, and the most common malformations are facial anomalies and congenital heart defects. In addition, tetralogy of Fallot and metopic synostosis may accompany trisomyen_US
dc.identifier.endpage270en_US
dc.identifier.issn1108-4189
dc.identifier.issue3en_US
dc.identifier.pmid24470740
dc.identifier.scopus2-s2.0-84891289813
dc.identifier.scopusqualityQ3
dc.identifier.startpage268en_US
dc.identifier.urihttps://hdl.handle.net/11468/20507
dc.identifier.volume17en_US
dc.identifier.wosWOS:000329736400014
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherLithographiaen_US
dc.relation.ispartofHippokratia
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectTrisomy 13en_US
dc.subjectTetralogy Of Falloten_US
dc.subjectMetopic Synostosisen_US
dc.titleA newborn with trisomy 13 who had tetralogy of Fallot and metopic synostosis: Case reporten_US
dc.titleA newborn with trisomy 13 who had tetralogy of Fallot and metopic synostosis: Case report
dc.typeArticleen_US

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