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De Novo 18q Deletion with Mitral Valve Insufficiency

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dc.authorscopusid6603432100
dc.authorscopusid18038193800
dc.authorscopusid6603455076
dc.authorscopusid23101000800
dc.authorscopusid6601981559
dc.authorscopusid25629271000
dc.authorscopusid25629271000
dc.contributor.authorGüneş, S.
dc.contributor.authorÖkten, G.
dc.contributor.authorKara, N.
dc.contributor.authorSaǧlam, Y.
dc.contributor.authorTaşdemir, H.A.
dc.contributor.authorEroǧlu Kayacik, O.
dc.contributor.authorTural, S.
dc.date.accessioned2020-06-21T15:18:01Z
dc.date.available2020-06-21T15:18:01Z
dc.date.issued2008
dc.departmentOndokuz Mayıs Üniversitesien_US
dc.department-temp[Güneş] Sezgin Özgür, Department of Medical Biology and Genetics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Ökten] Gülsen, Department of Medical Biology and Genetics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Kara] Nurten, Department of Medical Biology and Genetics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Saǧlam] Yaman, Istanbul Memorial Hospital, Okmeydani, Istanbul, Turkey; [Taşdemir] Haydar Ali, Department of Pediatric Neurology, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Eroǧlu Kayacik] O., Department of Pediatrics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Tural] Şengül, Department of Medical Biology and Genetics, Ondokuz Mayis Üniversitesi, Samsun, Turkeyen_US
dc.description.abstractWe report an 18 year-old Turkish girl with an 18q- deletion and abnormalities of face, mental and growth retardation, mitral deficiency and hypothyroidism. Mitral deficiency has not been reported in 18q deletion syndrome cases previously. We performed cytogenetic and molecular cytogenetic analysis, and brain MRI. Her karyotype was 46,XX,del(18)(q21.2→qter). This report compares the symptoms and features of the present patient with previously reported cases with 18q syndrome.en_US
dc.identifier.endpage265en_US
dc.identifier.issn1015-8146
dc.identifier.issue3en_US
dc.identifier.pmid18990980
dc.identifier.scopus2-s2.0-55049097695
dc.identifier.startpage261en_US
dc.identifier.volume19en_US
dc.identifier.wosWOS:000260328900001
dc.language.isoenen_US
dc.publisherMédecine et Hygièneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.journalGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject18Q Deletionen_US
dc.subjectMental Retardationen_US
dc.subjectMitral Valve Insufficiencyen_US
dc.titleDe Novo 18q Deletion with Mitral Valve Insufficiencyen_US
dc.typeArticleen_US
dspace.entity.typePublication

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