| Table 1. Cytogenetic test results from 141 infertile men with abnormal spermograms | |||
|
Chromosomal alterations |
Number of patients |
Karyotype |
Spermatic alteration |
|
a) numerical sex chromosome numerical abnormalities |
1 1 1 |
47,XXY[20] 47,XXY,[48]/46,XY[2] 46,XX[50] |
Azoospermia Azoospermia Azoospermia |
|
b) numerical autosome chromosome alterations |
1 1 1 |
47,XY,+10[3]/46,XY[97] 47,XY,+21[3]/46,XY[97] 47,XY,+21[2]/46,XY[98] |
Oligozoospermia Oligozoospermia Oligozoospermia |
|
c) mosaicism markers |
1 1 1 1 1 |
47,XY,21ps+,+marc[3]/46,XY,21ps+[97] 47,XY,+marc[3]/46,XY[47] 47,XY,+marc[7]/46,XY[28] 47,XY,15ps+,+marc[3]/46,XY,15ps+[47] 47,XY,+mar[6]/46,XY[44] |
Oligozoospermia Oligozoospermia Azoospermia Oligozoospermia Oligozoospermia |
|
d) reciprocal translocations |
1 1 1 1 1 1 |
46,XY,t(7;10)(q22;q24.1)[20] 46,XY,t(13;14)(q10;q10)[20] 46,XY,t(5;20)(q31;p13)[30] 46,XY, t(7;13)(q22;q34)[20] 46,X, t(Y;11)(p11.3;p14)[20] 46,Y,t(X;1)(q22.1;p22.1)[20] |
Azoospermia Azoospermia Azoospermia Azoospermia Azoospermia Azoospermia |
| e) investments | 1 | 46,XY,inv(18)(p11.1q23)[30] | Oligozoospermia |
|
f) additional segment |
1 | 46,XY, add(22)(p12)[50] | Oligozoospermia |
|
Polymorphic variants |
Number of patients |
Karyotype |
Spermatic alteration |
| 1qh+ | 1 | 46,XY,1qh+ |
Azoospermia |
| 9ph, 9qh+ | 1 | 46,XY,9ph,9qh+ |
Azoospermia |
| 13ps+ | 2 | 46,XY,13ps+ | Oligozoospermia |
| 14ps+ | 4 | 46,XY,14ps+ | |
| 13ps+, 14ps+ | 1 | 46,XY,13ps+,14ps+ | Azoospermia |
| 15ps+ |
3 1 |
46,XY,15ps+ 47,XY,15ps+,+marc[3]/46,XY,15ps+[47] |
Oligozoospermia Oligozoospermia |
| 15ps+, 21ps+, 22ps+ | 1 | 46,XY,15ps+,21ps+,22ps+ | Azoospermia |
| 16qh+ | 1 | 46,XY,16qh+ | Azoospermia |
| 21ps+ |
5 1 |
46,XY,21ps+ 47,XY, 21ps+,+marc[3]/46,XY,21ps+[97] |
Azoospermia/ Oligozoospermia Oligozoospermia |
| 22ps+ | 7 | 46,XY,22ps+ |
Azoospermia/ Oligozoospermia |
| 22pstk+ | 1 | 46,XY,22pstk+ | Oligozoospermia |
| Yqh+ | 6 | 46,XYqh+ |
Azoospermia/ Oligozoospermia |