Anal atresia, abnormal genitalia, and absent thumb : congenital malformations associated with mosaic ring chromosome 13

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dc.contributor.authorOcak, Zeynep
dc.contributor.authorÖzlü, Tülay
dc.contributor.authorVural, Mehmet
dc.date.accessioned2021-06-23T19:34:53Z
dc.date.available2021-06-23T19:34:53Z
dc.date.issued2013
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractAnal atresia, abnormal genitalia, and absent thumb: congenital malformations associated with mosaic ring chromosome 13: Because of the deletion of a segment of the chromosome during the formation of a ring, several clinical findings may be associated with ring chromosomes. Ring chromosome 13 is one of such disorders in which the genotype-phenotype correlation is stronger by virtue of the accumulating literature. It can be associated with multiple congenital abnormalities and severe mental retardation. We report a case with mosaic ring chromosome 13 whose prenatal ultrasound revealed bilateral ventriculomegaly. Anal atresia, unidentifiable external genitalia, and an absent thumb were observed in the postmortem examination.en_US
dc.identifier.endpage160en_US
dc.identifier.issn1015-8146
dc.identifier.issue2en_US
dc.identifier.pmid24032285en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage157en_US
dc.identifier.urihttps://www.proquest.com/openview/d5065132ad9aa8a98d2c4451a05742ad/1?cbl=36889&parentSessionId=EnRTV9EAai9des0dyP0JROOyhBNOl62i4bUW1vR9Xy0%3D&pq-origsite=gscholar&accountid=15310
dc.identifier.urihttps://hdl.handle.net/20.500.12491/7651
dc.identifier.volume24en_US
dc.identifier.wosWOS:000337197200004en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorOcak, Zeynep
dc.institutionauthorÖzlü, Tülay
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAbnormal Genitaliaen_US
dc.subjectAbsent Thumben_US
dc.subjectAnal Atresiaen_US
dc.subjectMosaicen_US
dc.subjectRing Chromosome 13en_US
dc.titleAnal atresia, abnormal genitalia, and absent thumb : congenital malformations associated with mosaic ring chromosome 13en_US
dc.typeArticleen_US

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Cerrahi Tıp Bilimleri Bölümü Koleksiyonu
Dahili Tıp Bilimleri Bölümü Koleksiyonu
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