|
Table 2: cytogenetic and molecular findings in pediatric patients recruited in the present study |
|||
|
Diagnostic |
Genetic results |
N˚ of cases |
Percentage (%) |
|
Karyotype result |
|||
|
Free Trisomy 21 |
47,XX,+21 or 47, XY, +21 |
84 |
67,2 |
|
Trisomy 21 with Roberstonian translocation |
46, XX der(21; 21)(q10;q10) |
1 |
0,8 |
|
46, XY der(21; 21)(q10;q10) |
2 |
1,6 |
|
|
46,XX, 21rob(21;22)(q10;q10) |
1 |
0,8 |
|
|
46,XY, 21rob(13;21)(q10;q10) |
1 |
0,8 |
|
|
Free Trisomy 18 |
47,XX,+18 or 47, XY, +18 |
7 |
5,6 |
|
Free Trisomy 13 |
47,XX,+13 or 47, XY, +13 |
3 |
2,4 |
|
Tisomy 13 with Roberstonian translocation |
46,XX, 13rob(13;13)(q10;q10) |
1 |
0,8 |
|
Cat Eye syndrome |
47, XX,+mar22 |
1 |
0,8 |
|
Cat Eye syndrome |
47, XX,+mar22/46,XX |
1 |
0,8 |
|
Turner Syndrome |
45,X0 |
1 |
0,8 |
|
Total of abnormal karyotype |
|
103 |
82,4% |
|
MLPA result |
|||
|
Williams Syndrome |
7q11.23 deletion |
1 |
0,8 |
|
DiGeorge Syndrome |
22q11.2 deletion |
1 |
0,8 |
|
Deletion 13qter |
46, XY,-13qter |
1 |
0,8 |
|
Total of abnormal MLPA results |
|
3 |
2,4% |
|
Normal karyotype and MLPA result |
46,XX or 46,XY |
19 |
15,2 |
|
Total |
|
125 |
100 |