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

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dc.authorscopusid26637163700
dc.authorscopusid24281631400
dc.authorscopusid25222304500
dc.contributor.authorOcak, Zeynep
dc.contributor.authorOzlu, T.
dc.contributor.authorVural, M.
dc.date.accessioned2024-09-25T19:43:07Z
dc.date.available2024-09-25T19:43:07Z
dc.date.issued2013
dc.departmentAbant İzzet Baysal Üniversitesien_US
dc.description.abstractBecause 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.scopus2-s2.0-84884321378en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage157en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/12456
dc.identifier.volume24en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmzYK_20240925en_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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