| Cytogenetic category |
Karyotypes |
No. of cases |
Frequency in all cases (%) |
Clinical findings |
| Normal |
46,XX or 46,XY |
52 |
81.2 |
|
| Abnormal |
Numerical and structural chromosome abnormalities |
12 |
18.8 |
|
| |
Total |
64 |
|
|
| Numerical chromosome abnormalities |
Prepubertal
underdeveloped testes, lack of penile enlargement
t, absence of pubic, auxiliary, facial hair
Postpubertal
delayed puberty, constitutional delay, infertility, low levels of testosterone,
high-normal to high levels of LH and FSH, loss of libido, erectile dysfunction |
| Klinefelter syndrome |
47,XXY |
6 |
|
| Klinefelter syndrome with isochromosome |
47,Xi(Xq)Y |
2 |
|
| X long arm abnormalities |
46,XY/47,XXY(20%) |
1 |
|
| Klinefelter syndrome with mosaic |
46,XX, anoploidy (15%) |
1 |
|
| |
Total |
10 |
15.6 |
|
| Structural chromosome abnormalities |
46,Xi(Xq
46,XY,robt(14;15) |
1
1 |
|
|
| |
Total |
2 |
3.1 |
|
|
