Table 1 Characteristics of reciprocal chromosome translocations (RCTs) carriers, including two familial cases (T10-T13) of fathers and sons
RCT | Karyotype | Seminal parametersb | % of genetically unbalanced spermatozoab | % of deprotaminated spermatozoa (AB)b | % of spermatozoa with fragmented DNA (TUNEL)b | Hyperhaploidy ratio in spermatozoa (%; enumerated only results higher than Mean Control values)b |
|---|---|---|---|---|---|---|
T1 | 46,XY,t(1;11)(p36.22;q12.2)a | N | 59.6 | nd | 8.80 | 4–0.34; 8–0.40; 10–0.31; XY – 0.50 |
T2 | 46,XY,t(2;8)(q21;q22) | T | 54.3 | 28.5 | 18.8 | 10–0.22; 11–0.14; XY – 0.73 |
T3 | 46,XY,t(2;10)(q13;q24.3) | N | 50.7 | 66.3 | 35.8 | 7–0.22; 8–0.48; 18–0.53; XY – 0.62 |
T4 | 46,XY,t(3;9)(q27;q22.3) | AT | 43.0 | 22.0 | 7.6 | 4–0.51; 7–0.26; 8–0.60; 11–0.18; 18–0.56; XY – 0.33 |
T5 | 46,XY,t(4;10)(q35;q23.2) | N | 39.4 | 36.5 | 5.9 | 7–0.29; 18–0.64; XY – 0.16 |
T6 | 46,XY,t(4;18)(q33;q22.3) | N | 42.3 | nd | 34.1 | 8–0.20; 9–0.32; 10–0.15 |
T7 | 46,XY,t(6;14)(q21;q13.3) | N | 45.1 | 25.4 | 19.2 | 4–0.25; 7–0.29; 8–0.31; 9–0.37; 11–0.60; 18–0.59; XY – 0.29 |
T8 | 46,XY,t(7;18)(q11.23;q12.2) | N | 65.7 | 45.6 | 5.6 | 11–0.22 |
T9 | 46,XY,t(11;13)(p15.5;q22) | O | 45.0 | 22.2 | 19.7 | 10–0.21; 18–0.32; XY – 0.36 |
Familial case no. 1: | ||||||
T10 father | 46,XY,t(4;5)(p15.1;p12)c | N | 65.2 | 4.6 | nd | 10–0.17; 18–0.22; XX – 0.25; YY – 0.18; XY – 0.33 |
T11 son | T | 65.6 | 13.7 | nd | 18–0.29; XY – 0.26 | |
Familial case no. 2: | ||||||
T12 father | 46,XY,t(7;10)(p21.2;q26.13) | N | 37.6 | nd | 25.9 | 4–0.58; 8–0.28; XY – 0.31 |
T13 son | N | 44.4 | 25.1 | 5.6 | 9–0.22; XY – 0.48 | |
Mean RCT value ± SD | – | 50.61 ± 16.78 | 28.99 ± 18.55* | 17.00 ± 11.85* | ||
Mean Control value ± SDd | – | – | 16.53 ± 7.89 | 8.41 ± 3.39 | 4–0.13; 7–0.13; 8–0.13; 9–0.12; 10–0.09; 11–0.08; 18–0.09; XX – 0.11; YY – 0.10; XY – 0.08 | |