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