Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion

Basit Öğe Kaydı
dc.authoridKurtulgan, Hande Kucuk -- 0000-0001-9172-3244en_US
dc.contributor.authorKurtulgan, Hande Kucuk
dc.contributor.authorOzer, Leyla
dc.contributor.authorYildirim, Malik Ejder
dc.contributor.authorUnsal, Evrim
dc.contributor.authorAktuna, Suleyman
dc.contributor.authorBaltaci, Volkan
dc.contributor.authorAkkus, Nejmiye
dc.contributor.authorSezgin, Ilhan
dc.date.accessioned2019-07-27T12:10:23Z
dc.date.accessioned2019-07-28T09:47:24Z
dc.date.available2019-07-27T12:10:23Z
dc.date.available2019-07-28T09:47:24Z
dc.date.issued2015
dc.department[Kurtulgan, Hande Kucuk -- Yildirim, Malik Ejder -- Akkus, Nejmiye -- Sezgin, Ilhan] Cumhuriyet Univ, Sch Med, Div Med Genet, Sivas, Turkey -- [Ozer, Leyla] Mikrogen Genet Diag Ctr, Ankara, Turkey -- [Unsal, Evrim] Yeni Yuzyil Univ, Sch Med, Div Histol & Embryol, Istanbul, Turkey -- [Aktuna, Suleyman -- Baltaci, Volkan] Yeni Yuzyil Univ, Sch Med, Med Div Med Biol & Genet, Istanbul, Turkeyen_US
dc.description.abstractBackground: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. Case Presentation: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation. Conclusions: Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat,arr14q24.1-qter(64,800,000-108,350,000bp)x3.en_US
dc.identifier.doi10.1186/s13039-015-0195-7en_US
dc.identifier.issn1755-8166
dc.identifier.pmid26594242en_US
dc.identifier.scopus2-s2.0-84947919507en_US
dc.identifier.scopusqualityQ3
dc.identifier.urihttps://dx.doi.org/10.1186/s13039-015-0195-7
dc.identifier.urihttps://hdl.handle.net/20.500.12418/7670
dc.identifier.volume8en_US
dc.identifier.wosWOS:000365259500001en_US
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherBIOMED CENTRAL LTDen_US
dc.relation.ispartofMOLECULAR CYTOGENETICSen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPericentric inversion of chromosome 14en_US
dc.subject14q duplicationen_US
dc.subjectMicrocephalyen_US
dc.subjectCardiac defectsen_US
dc.titleRecombinant chromosome with partial 14 q trisomy due to maternal pericentric inversionen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksyonu
Scopus İndeksli Yayınlar Koleksiyonu