Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

Valentine Marquet; Dominique Bourgeois; Philippe De Mas; Laurence Bouneau; Adeline Vigouroux-Castera; Romain Molignier; Patrick Calvas

doi:10.1002/ccr3.313

Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

Clin Case Rep. 2015 Sep;3(9):757-61. doi: 10.1002/ccr3.313. Epub 2015 Aug 20.

Authors

Valentine Marquet¹, Dominique Bourgeois¹, Philippe De Mas², Laurence Bouneau¹, Adeline Vigouroux-Castera¹, Romain Molignier², Patrick Calvas¹

Affiliations

¹ Service de Génétique Médical, Centre Hospitalier Universitaire Purpan Toulouse, France.
² Laboratoire de Biologie Clinique, Clinique Saint Jean Languedoc Toulouse, France.

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.

Keywords: Azoospermia; chromosome 21; chromosome 22; deletion, chromosome; insertion; karyotype; partial monosomy 21.

Publication types

Case Reports