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

Clinical Case Reports

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

[1] Service de Génétique Médical, Centre Hospitalier Universitaire Purpan, Toulouse, France;Laboratoire de Biologie Clinique, Clinique Saint Jean Languedoc, Toulouse, France

关键词: Azoospermia;    chromosome 21;    chromosome 22;    deletion;    chromosome;    insertion;    karyotype;    partial monosomy 21;   

DOI  :  10.1002/ccr3.313

来源: Wiley

【 摘 要 】

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.

【 授权许可】

CC BY-NC   
© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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