Two Siblings with Currarino Syndrome with 7q34 Deletion Due to Maternal t(7;14)(q34;p13)

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dc.contributor.authorYildirim, S.
dc.contributor.authorTopaloglu, N.
dc.contributor.authorSılan, Fatma
dc.contributor.authorKuru, D.
dc.date.accessioned2025-01-27T21:01:45Z
dc.date.available2025-01-27T21:01:45Z
dc.date.issued2014
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractCurrarino syndrome is a rare but well-described form of caudal regression syndrome characterised by anorectal malformations, sacral bony defects and a presacral mass. We present two siblings with Currarino triad due to pure 7q34 deletion but different phenotypes. They had the typical spectrum of sacral agenesis, pre-sacral tumor and anorectal malformations. Interestingly, they have the same genotype but different dysmorphic characteristics. Chromosomal analysis detected that the mother was carrier. To the best of our knowledge, this is the first reported 7q34-14p translocation.
dc.identifier.endpage184
dc.identifier.issn1013-9923
dc.identifier.issue3
dc.identifier.scopus2-s2.0-84904423610
dc.identifier.scopusqualityQ4
dc.identifier.startpage181
dc.identifier.urihttps://hdl.handle.net/20.500.12428/27175
dc.identifier.volume19
dc.identifier.wosWOS:000339414900007
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherMedcom Ltd
dc.relation.ispartofHong Kong Journal of Paediatrics
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectCurrarino syndrome
dc.subjectMicrocephaly
dc.subjectMNX1
dc.subjectSacral dysgenesis
dc.titleTwo Siblings with Currarino Syndrome with 7q34 Deletion Due to Maternal t(7;14)(q34;p13)
dc.typeArticle

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