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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.

SUBMITTER: Marquet V 

PROVIDER: S-EPMC4574793 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

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

Marquet Valentine V   Bourgeois Dominique D   De Mas Philippe P   Bouneau Laurence L   Vigouroux-Castera Adeline A   Molignier Romain R   Calvas Patrick P  

Clinical case reports 20150820 9


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. ...[more]

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