Open AccessDouble deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
Author(s) -
Marquet Valentine,
Bourgeois Dominique,
De Mas Philippe,
Bouneau Laurence,
VigourouxCastera Adeline,
Molignier Romain,
Calvas Patrick
Publication year - 2015
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.313
Subject(s) - karyotype , chromosome , genetics , chromosome 22 , chromosome 18 , microbiology and biotechnology , biology , medicine , gene
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.