Table 2.
Phenotype/genotype description of the 14 TGCT patients with gr/gr deletion and of the 5 TGCT patients with other partial AZFc deletions
| Patient | Origin | Testis tumor histology | Total sperm count (106) | Y chromosome clade/haplogroups cluster | PCR plus/minus | CDY1/DAZ dosage | RFLP | |||
|---|---|---|---|---|---|---|---|---|---|---|
| sY1191 | sY1291 | CDY1 copy number | DAZ copy number | CDY1 deleted copy | DAZ deleted copy | |||||
| gr/gr deletion | ||||||||||
| A818 | Italian | Non-seminoma | 0.00 | J | Present | Absent | 1 | 2 | CDY1A | DAZ3/4 |
| A1171 | Italian | Seminoma | 720.00 | P*QR | Present | Absent | 1 | 2 | CDY1A | DAZ1/2 |
| A1445 | Italian | Seminoma | 244.80 | P*QR | Present | Absent | 1 | 2 | CDY1A | DAZ3/4 |
| A1663 | Italian | Non-seminoma | 7.56 | CFGHI | Present | Absent | 3 | 6 | CDY1B | DAZ1/2 |
| A1713 | Italian | Seminoma | 109.20 | P*QR | Present | Absent | 1 | 2 | CDY1A | DAZ3/4 |
| A1734 | Italian | Seminoma | 0.36 | CFGHI | Present | Absent | 1 | 2 | CDY1A | DAZ3/4 |
| A1912 | Italian | Seminoma | 209.00 | E | Present | Absent | 1 | 2 | CDY1B | DAZ3/4 |
| A2140 | Italian | Seminoma | 240.00 | P*QR | Present | Absent | 1 | 2 | CDY1B | DAZ1/2 |
| KG8 | Italian | Non-seminoma | 152.00 | KLO | Present | Absent | 1 | 2 | CDY1A | DAZ3/4 |
| KG62 | Italian | Seminoma | 56.00 | KLO | Present | Absent | 1 | 2 | CDY1A | DAZ1/2 |
| KG162 | Italian | Seminoma | 35.00 | J | Present | Absent | 1 | 2 | CDY1A | DAZ1/2 |
| 16–001 | Spanish | Seminoma | 98.70 | E | Present | Absent | 1 | 2 | CDY1A | DAZ3/4 |
| 17–484 | Spanish | Seminoma | 89.60 | J | Present | Absent | 1 | 2 | CDY1A | DAZ3/4 |
| 17–733 | Spanish | Seminoma | 0.00 | P*QR | Present | Absent | 1 | 2 | CDY1A | DAZ1/2 |
| Other partial AZFc deletions: | ||||||||||
| b2/b3 deletion | ||||||||||
| A1881 | Italian | Seminoma | 36.00 | CFGHI | Absent | Present | 2 | 4 | CDY1A | DAZ3/4 |
| KG117 | Italian | Seminoma | 38.40 | E | Absent | Present | 1 | 2 | CDY1B | DAZ3/4 |
| KG34 | Italian | Seminoma | 135.00 | CFGHI | Absent | Present | 1 | 2 | CDY1A | DAZ3/4 |
| b1/b3 deletion | ||||||||||
| KG156 | Italian | Seminoma | 40.00 | CFGHI | Absent | Absent | 2 | 4 | No deletion | DAZ1/2 |
| Atypical deletion | ||||||||||
| A1623 | Italian | Non-seminoma | 45.51 | J | Present | Present | 1 | 4 | CDY1B | No deletion |