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- Title
Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes.
- Authors
Malvestiti, Francesca; Benedicenti, Francesco; De Toffol, Simona; Chinetti, Sara; Höller, Adelheid; Grimi, Beatrice; Fichtel, Gertrud; Braghetto, Monica; Agrati, Cristina; Bonaparte, Eleonora; Maggi, Federico; Simoni, Giuseppe; Romana Grati, Francesca
- Abstract
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.
- Subjects
CHROMOSOME inversions; RECOMBINANT proteins; GENETIC carriers; PHENOTYPES; KARYOTYPES
- Publication
Case Reports in Genetics, 2013, p1
- ISSN
2090-6544
- Publication type
Article
- DOI
10.1155/2013/306098