Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient. Issue 9 (20th August 2015)

• Record Type: Journal Article
• Authors: Marquet, Valentine; Bourgeois, Dominique; De Mas, Philippe; Bouneau, Laurence; Vigouroux‐Castera, Adeline; Molignier, Romain; Calvas, Patrick
• Is Part Of: Clinical case reports. Volume 3:Issue 9(2015:Sep.)
• Page Start: 757
• Page End: 761
• Publication Date: 2015-08-20
• Subjects: Azoospermia -- chromosome 21 -- chromosome 22 -- deletion, chromosome -- insertion -- karyotype -- partial monosomy 21; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.313
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.