PMC4107489_01
Histological analysis of testicular tissue from the patient with a ring chromosome 4 and microdeletion of 4p16.3. Testicular tissue demonstrates reduced number of primary spermatocytes and spermatogenic arrest at the primary spermatocyte stage.
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F1
Histology of the testicular biopsy sample showed the number of primary spermatocytes was reduced, and spermatogenic arrest at the primary spermatocyte stage (Figure 1).
Karyotype analysis. (A): Partial G-banded karyotype of peripheral blood lymphocytes showing a normal chromosome 4 and ring chromosome 4. (B): Array CGH analysis of chromosome 4 in the patient with microdeletion at 4p16.3.
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F2
Karyotype analysis of peripheral blood lymphocytes by classic G-binding revealed 46,XY,r(4)(::p16.3   q35.2::)[31]/45,XY,-4[3] (Figure 2A). The results indicated a terminal 852 kb deletion at 4p16.3 that included 17 annotated genes (MIRN571, LOC654254, ABCA11, LOC642707, ZNF141, ATP51, GAK, ZNF595, MGC26356, ZNF718, MFSD7, PDE6B, PCGF3, MYL5, PIGG, ZNF721, and CPLX1) (Figure 2B).