Case Reports in Genetics (Jan 2013)

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

  • Francesca Malvestiti,
  • Francesco Benedicenti,
  • Simona De Toffol,
  • Sara Chinetti,
  • Adelheid Höller,
  • Beatrice Grimi,
  • Gertrud Fichtel,
  • Monica Braghetto,
  • Cristina Agrati,
  • Eleonora Bonaparte,
  • Federico Maggi,
  • Giuseppe Simoni,
  • Francesca Romana Grati

DOI
https://doi.org/10.1155/2013/306098
Journal volume & issue
Vol. 2013

Abstract

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Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.