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

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Kurtulgan H. K., Özer L., YILDIRIM M. E., ÜNSAL E., Aktuna S., BALTACI V., ...Daha Fazla

Molecular Cytogenetics, cilt.8, sa.1, 2015 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1186/s13039-015-0195-7
  • Dergi Adı: Molecular Cytogenetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: 14q duplication, Cardiac defects, Microcephaly, Pericentric inversion of chromosome 14
  • İstanbul Yeni Yüzyıl Üniversitesi Adresli: Evet

Özet

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(64,800,000-108,350,000 bp)x3.