| Table 1. Chromosomal alterations observed in study participants | ||||||||
| Chromosomal Alterations* | ||||||||
| Normal Variations | Chromosomal Abnormalities | |||||||
| Numerical | Structural | Combined numerical and structural | ||||||
| Type | No of Cases | Type | No of Cases | Type | No of Cases | Type | No of Cases | |
| Infertile Patients with UDT N=522 | 46,XY, inv (9)(p12q13) 46,XY, inv(3)(p11q11.2) 46,X, inv(Y)(p11.2q11.2) |
4 2 1 |
Klinefelter Syndrome Jacobs Syndrome Different types of Klinefelter Syndrome mosaicism 47,XX,+mar[4]/46,XX[12] 45,X[ ]/46,XY[] |
18 1 4 1 4 |
46,XY,t(1;16)(p10;q10) 46,XY,t(13;16)(q12.1;q22) 45,XY,der(13;13)(q10;q10) 46,XY,inv(4)(p15.32p14) 46,X,del(Y)(q11.222) |
1 1 1 1 1 |
45,X[21]/46, X, dic(Y;Y) ?(p11.32; p11.2)[13] |
1 |
| Fertile Men (1stControl Group) N=268 | 46,XY,inv(9)(p12q13) 46,XYqh+ 46,XY,18qh+ 46,XY,21pstk+ 46,XY,15ps+ |
2 1 1 1 1 |
47,XXY,[1]/45,X,[1]/46,X Y[13] 48,XXYY[1]/45,X[1]/46, XY[13] |
1 1 |
46,XY,inv(10)(p12.3q21.3) | 1 | - | - |
| Infertile Patients without UDT (2ed control group) N=300 | 46,XY,inv(9)(p12q13) 46,XY,1qh+ 46,XY,9qh+ 46,XY,16qh+ 46,XY,14pss,14stk+ 46,XY,15pss,15pstk+ 46,XY,15pstk+ |
7 1 1 1 1 1 1 |
Klinefelter Syndrome mosaicism 47,XXY,[2]/46,XY[13] 45,X[21]/46,XY[18] |
13 1 1 |
46,XY,dup(7)(q11,21q11.22) 46,XY,t(6;12)(q25.1;q21.31) 46,XY,t (6;17)(p21,33;p10) |
1 1 1 |
- | - |
| * Four cases of unfertile patients with UDT diagnosed with sex reversal 46, XX syndrome are not mentioned in this table. | ||||||||