Nonmosaic Isodicentric Y Chromosome: A Rare Cause of Azoospermia— From Genetics to Clinical Practice

Figure 2

Karyotyping and fluorescence in situ hybridization (FISH) analyses. (a) Conventional chromosome analysis of cultured peripheral lymphocytes identified an idic(Y)(q11.22) chromosome. (b) FISH analysis was performed using probes for the telomeric regions of both the X and Y chromosomes. Green signals indicate the pter-region of the X and Y chromosomes (Abbott TelVysion Xp/Yp probe). Red signals indicate the qter-region of the X and Y chromosomes (in-house subtelomeric XqYq probe). FISH analysis demonstrated that the aberrant Y chromosome contained 2 signals for the Yp subtelomeric probe and absence of the Yq subtelomeric probe. This confirmed the presence of an idic(Y)(q).

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