Partial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonate

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dc.contributor.authorŞenses, Dursun A.
dc.contributor.authorSılan, Fatma
dc.contributor.authorUzun, Hakan
dc.contributor.authorÇetin, Zafer
dc.contributor.authorÇavuşoğlu, Ebru Uçar
dc.contributor.authorKocabay, Kenan
dc.date.accessioned2020-04-30T23:20:34Z
dc.date.available2020-04-30T23:20:34Z
dc.date.issued2007
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionWOS: 000252605500007en_US
dc.descriptionPubMed: 18286822en_US
dc.description.abstractWe describe a male neonate with a duplication of 1(q25qter) due to de novo unbalanced translocation (1;19)(q25;pter). He had macrocephaly, wide sutures and wide anterior fontanelle, bilateral temporoparietal bossing, downward slanting palpebral fissures, low set, posteriorly rotated ears, downturned mouth corners, thin upper lip, retrognathia, high arched palate, triangular face, widely spaced nipples, bilateral single transverse palmar creases, bilateral partial syndactyly between second and third toes, ventricular dilatation,, corpus callosum hypoplasia, and cavum septi pellucidi and cavum vergae, ventricular and atrial septal defects.en_US
dc.identifier.endpage416en_US
dc.identifier.issn1015-8146
dc.identifier.issue4en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage409en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12684/4033
dc.identifier.volume18en_US
dc.identifier.wosWOS:000252605500007en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
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.subject1q trisomyen_US
dc.subjectduplication of 1qen_US
dc.subjectunbalanced translocation of 1qen_US
dc.titlePartial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonateen_US
dc.typeArticleen_US

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