Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
Date
2015Author
Kurtulgan, Hande KucukOzer, Leyla
Yildirim, Malik Ejder
Unsal, Evrim
Aktuna, Suleyman
Baltaci, Volkan
Akkus, Nejmiye
Sezgin, Ilhan
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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.
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MOLECULAR CYTOGENETICSVolume
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