dc.contributor.author | Kurtulgan, Hande Kucuk | |
dc.contributor.author | Ozer, Leyla | |
dc.contributor.author | Yildirim, Malik Ejder | |
dc.contributor.author | Unsal, Evrim | |
dc.contributor.author | Aktuna, Suleyman | |
dc.contributor.author | Baltaci, Volkan | |
dc.contributor.author | Akkus, Nejmiye | |
dc.contributor.author | Sezgin, Ilhan | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T09:47:24Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T09:47:24Z | |
dc.date.issued | 2015 | |
dc.identifier.issn | 1755-8166 | |
dc.identifier.uri | https://dx.doi.org/10.1186/s13039-015-0195-7 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/7670 | |
dc.description | WOS: 000365259500001 | en_US |
dc.description | PubMed ID: 26594242 | en_US |
dc.description.abstract | Background: 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.language.iso | eng | en_US |
dc.publisher | BIOMED CENTRAL LTD | en_US |
dc.relation.isversionof | 10.1186/s13039-015-0195-7 | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Pericentric inversion of chromosome 14 | en_US |
dc.subject | 14q duplication | en_US |
dc.subject | Microcephaly | en_US |
dc.subject | Cardiac defects | en_US |
dc.title | Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion | en_US |
dc.type | article | en_US |
dc.relation.journal | MOLECULAR CYTOGENETICS | en_US |
dc.contributor.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, Turkey | en_US |
dc.contributor.authorID | Kurtulgan, Hande Kucuk -- 0000-0001-9172-3244 | en_US |
dc.identifier.volume | 8 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |