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Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
Valentine Marquet1, Dominique Bourgeois1, Philippe De Mas2
1Service de Génétique Médical, Centre Hospitalier Universitaire Purpan 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.
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