Alterations and Chromosomal Variants in the Ecuadorian Population

Table 2

Chromosomal gonosomopathies in the registry.

	Number	%
Turner syndrome
Monosomy	132	40.1
Mosaic	109	33.1
Isochromosome	6	1.8
Isochromosome (mosaic)	8	2.4
Ring (mosaic)	1	0.3
Trisomy X	3	0.9
Mosaic	3	0.9
Fra (X) (q27.3)	6	1.8
Klinefelter syndrome	17	5.2
Mosaic	4	1.2
47,XYY	7	2.1
48,XXYY	4	1.2
49,XXXXY	1	0.3
Disorders of sex development
Female pseudohermaphroditism	6	1.8
Male pseudohermaphroditism	17	5.2
Mixed gonadal dysgenesis	2	0.6
Pure gonadal dysgenesis	1	0.3
Ambiguous genitalia	2	0.6
Total	329	100.0