Objective: To address phenotype/genotype correlation in a man with i(Y)(p10).
Design: Case report.
Setting: University-based reproductive genetics laboratory.
Patient(s): A 27-year-old azoospermic man with i(Y)(p10), relatively normal stature, and testicular Sertoli-cell-only syndrome.
Intervention(s): Testicular biopsy, cytogenetic study, Y-chromosome deletion mapping analysis, fluorescence in situ hybridization (FISH).
Main Outcome Measure(s): Expression of Y-chromosome genes.
Result(s): We have identified one azoospermic man with i(Y)(p10) of 312 Taiwanese men presenting with a severe spermatogenic defect. Y-chromosome deletion mapping analysis confirmed deletions of all Yq sequences, including a putative growth controlling gene. Fluorescence in situ hybridization (FISH) analysis showed duplication of Yp material. The patient had normal stature considering midparental height. He also had no germ cells in the testicular tissue (Sertoli-cell-only syndrome) resulting from the loss of azoospermia factor in Yq.
Conclusion(s): Among structural rearrangements of the Y-chromosome, the isochromosome of Yp occurs very rarely. This case is the first reported case of an isochromosome Yp with a detailed description of testicular histology and body height.
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