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An unusual reciprocal X-autosome translocation in an infertile azoospermic man
Tomomoto Ishikawa1, Yutaka Kondo, Kohei Yamaguchi
1Division 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.
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