Table 1.

Frequency and type of chromosomal abnormalities in primary amenorrhea

Cytogenetic category	Karyotype	n (%)
Normal	46, XX	369 (75.3)
Chromosomal abnormality		121 (24.7)
1. Numerical abnormalities		53 (43.8)
a. Pure Turner’s syndrome	(45, X)	28 (23.2)
b. Trisomy X	47, XXX	1 (0.8)
Mosaicism of X	-	24 (19.8)
	45, X/46, XX	17 (14.0)
	45, X/46, XY	3 (2.4)
	46, XX/47, XXX	3 (2.4)
	45, X/46, XX/47, XXX	1 (0.8)
2. Structural abnormalities	-	32 (26.4)
a. Deletion Xq	46, X, del (Xq)	10 (8.3)
b. Isochromosome	46, X, iso (Xq)	9 (7.4)
c. Translocation	46, X, t (X; A)	4 (3.3)
d. Idic	46, X, idic (X) p	1 (0.8)
e. Marker chromosome	46, X+marker	4 (3.3)
f. Inversion 9	46, XX, inv (9) 46, XY	4 (3.3)
3. Male karyotype	46, XY	36 (29.8)