PMC7399736_01
Testicular biopsy with maturation arrest at the spermatocyte level. Red arrow = spermatocyte. Blue arrow = spermatogona. Yellow arrow = Sertoli cell.
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fig1
The biopsy showed disrupted spermatogenesis with maturation arrest at the spermatocyte level in most tubuli seminiferi (Figure 1), while others showed a Sertoli cell-only syndrome.
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).
CRIE2020-8828740.002.jpg
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fig2
The result of karyotyping and fluorescence in situ hybridization (FISH) on cultured peripheral lymphocytes described an isodicentric Y chromosome with karyotype 46,X,idic(Y)(q11.22) (Figure 2).