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An unusual reciprocal X-autosome translocation in an infertile azoospermic man.

Ishikawa T, Kondo Y, Yamaguchi K, Oba T, Sakamoto Y, Takenaka A, Fujisawa M

Division of Urology, Department of Organs Therapeutics, Faculty of Medicine, Kobe University Graduate School of Medicine, Kobe, Japan. iskwtmmt@med.kobe-u.ac.jp <iskwtmmt@med.kobe-u.ac.jp>

OBJECTIVE: To analyze an unusual reciprocal X-autosome translocation found in an infertile man with azoospermia. DESIGN: Case report with a review of scientific literature. SETTING: Male infertility clinic, Kobe University Hospital. PATIENT(S): Infertile man with azoospermia but otherwise apparently healthy. INTERVENTION(S): Peripheral blood lymphocytes were obtained for karyotyping, and metaphases were studied by fluorescence in situ hybridization procedure. MAIN OUTCOME MEASURE(S): Seminal analysis, hormone levels, volume of testis, and pathologic analysis of testis were performed. RESULT(S): The semen analysis revealed azoospermia. The lymphocytic karyotype showed a man with X-autosome translocations. Histopathologic examination of the sample showed maturation arrest. CONCLUSION(S): This is the first clinical report of azoospermia with reciprocal X-autosome 11 translocations. This translocation may be a direct genetic risk factor for maturation arrest.

Published 11 September 2007 in Fertil Steril, 88(3): 705.e15-7.
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