title: Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.
abstract: We report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22.3.
authors.affiliation: Service de Génétique Médical, Centre Hospitalier Universitaire Purpan Toulouse, France.
authors.forename: Valentine
authors.initials: V
authors.lastname: Marquet
authors.affiliation: Service de Génétique Médical, Centre Hospitalier Universitaire Purpan Toulouse, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Bourgeois
authors.affiliation: Laboratoire de Biologie Clinique, Clinique Saint Jean Languedoc Toulouse, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: De Mas
authors.affiliation: Service de Génétique Médical, Centre Hospitalier Universitaire Purpan Toulouse, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Bouneau
authors.affiliation: Service de Génétique Médical, Centre Hospitalier Universitaire Purpan Toulouse, France.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vigouroux-Castera
authors.affiliation: Laboratoire de Biologie Clinique, Clinique Saint Jean Languedoc Toulouse, France.
authors.forename: Romain
authors.initials: R
authors.lastname: Molignier
authors.affiliation: Service de Génétique Médical, Centre Hospitalier Universitaire Purpan Toulouse, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
keywords: Azoospermia; chromosome 21; chromosome 22; deletion, chromosome; insertion; karyotype; partial monosomy 21