title: Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes.
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.
authors.affiliation: Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Malvestiti
authors.forename: Francesco
authors.initials: F
authors.lastname: Benedicenti
authors.forename: Simona
authors.initials: S
authors.lastname: De Toffol
authors.forename: Sara
authors.initials: S
authors.lastname: Chinetti
authors.forename: Adelheid
authors.initials: A
authors.lastname: Höller
authors.forename: Beatrice
authors.initials: B
authors.lastname: Grimi
authors.forename: Gertrud
authors.initials: G
authors.lastname: Fichtel
authors.forename: Monica
authors.initials: M
authors.lastname: Braghetto
authors.forename: Cristina
authors.initials: C
authors.lastname: Agrati
authors.forename: Eleonora
authors.initials: E
authors.lastname: Bonaparte
authors.forename: Federico
authors.initials: F
authors.lastname: Maggi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Simoni
authors.forename: Francesca Romana
authors.initials: FR
authors.lastname: Grati