Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes. (16th May 2013)

• Record Type: Journal Article
• 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; Grati, Francesca Romana
• Other Names: Chae S.-C. Academic Editor.; Cheng C.-W. Academic Editor.; Cotter P. D. Academic Editor.; Fenger M. Academic Editor.; Morrison P. Academic Editor.; Vogt G. Academic Editor.; Wang X. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2013(2013)
• Publication Date: 2013-05-16
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2013/306098
• Languages: English
• ISSNs: 2090-6544

Abstract

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.