title: Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion.
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.
  
  
  METHODS
  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.
authors.affiliation: Cumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey.
authors.forename: Hande Küçük
authors.initials: HK
authors.lastname: Kurtulgan
authors.affiliation: Mikrogen Genetic Diagnosis Center, Cinnah Street 47/1 Çankaya, Ankara, Turkey.
authors.forename: Leyla
authors.initials: L
authors.lastname: Özer
authors.affiliation: Cumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey.
authors.forename: Malik Ejder
authors.initials: ME
authors.lastname: Yıldırım
authors.affiliation: Division of Histology and Embryology, Yeni Yüzyıl University School of Medicine, İstanbul, Turkey.
authors.forename: Evrim
authors.initials: E
authors.lastname: Ünsal
authors.affiliation: Medicine Division of Medical Biology and Genetics, Yeni Yüzyıl University School of Medicine, İstanbul, Turkey.
authors.forename: Süleyman
authors.initials: S
authors.lastname: Aktuna
authors.affiliation: Medicine Division of Medical Biology and Genetics, Yeni Yüzyıl University School of Medicine, İstanbul, Turkey.
authors.forename: Volkan
authors.initials: V
authors.lastname: Baltacı
authors.affiliation: Cumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey.
authors.forename: Nejmiye
authors.initials: N
authors.lastname: Akkuş
authors.affiliation: Cumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey.
authors.forename: İlhan
authors.initials: İ
authors.lastname: Sezgin
keywords: 14q duplication; Cardiac defects; Microcephaly; Pericentric inversion of chromosome 14