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Updated: Mar 29, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
Hande Küçük Kurtulgan1, Leyla Özer2, Malik Ejder Yıldırım1
1Cumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey.
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.
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