case_images: PMC6874946_01
case_images: PCR products of all tested AZFa region markers. 1000 bp ladder was used as the size control (lanes 8, 16, 24, 32). Lanes 1-7: Patient's DNA sample. Lanes 9-15: DNA sample of the father of patient. Lanes 17 - 23: Positive control (healthy male without AZF deletions). Lanes 25-31: Negative control (male with full AZFa deletion). Lanes 33-39: No template control. For each sample, PCR products representing the tested markers are shown in following order: sY85: lanes no. 1, 9, 17, 26, 33; sy84: lanes no. 2, 10, 18, 26, 34; sY1323: lanes no. 3, 11, 19, 27, 35; USP9Y-44: lanes no. 4, 12, 20, 28, 36; sY87: lanes no. 5, 13, 21, 29, 37; sY1234: lanes no. 6, 14, 22, 30, 39; DDX3Y-16: lanes no. 7, 15, 23, 31, 39.
case_images: CRIG2019-3802613.001.jpg
case_images: PMC6874946_01_CRIG2019-3802613.001.jpg
case_images: fig1
case_images: Deletion of both Y chromosomes' STSs sY84 and sY1323 was detected in patients' (Figure 1, lanes 1-7) and his father DNA samples (lanes 9-16), when compared to positive control (healthy male DNA) (lanes 18-24), confirming the inheritance of this region's deletion.
case_images: Schematic drawing of the tested STS markers. Partial deletion of AZFa is marked with red box.
case_images: CRIG2019-3802613.002.jpg
case_images: PMC6874946_01_CRIG2019-3802613.002.jpg
case_images: fig2
case_images: AZFa region gene USP9Y and leaving second AZFa gene DDX3Y intact (Figure 2). AZFa partial microdeletion was detected, removing part of AZFa non-coding region and 5' part of USP9Y gene, as testing USP9Y deletion with STS markers in both ends of the gene, sY1323 and USP9Y-44, showed, that 3' marker USP9Y-44 was present.