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Male infertility associated with a unique 8;22 translocation
1Lifespan Academic Medical Center Cytogenetics Laboratory, Rhode Island Hospital, Providence, Rhode Island, USA.
Abstract:
Proper evaluation of male infertility includes a careful history, physical examination, semen analysis, and karyotyping. Molecular cytogenetic analysis may also be necessary to further delineate the karyotype. Following the above approach, we found an apparently unique 8;22 translocation in a male patient with infertility but few other phenotypic manifestations. Delineating the exact genetic basis of infertility is important in view of the most recent advances in reproductive technology such as in vitro fertilization and intracytoplasmic sperm injection. Patients utilizing these emerging techniques need to be properly counseled as to their risks of transmitting these chromosomal abnormalities to their offspring.