Motives

Karyotype results

Number of karyotype cases

Hypospadias

Normal

6

Abnormal

Mosaic: 46 X del (Y) (p11.2q11.23) [45.5%]/45, X [54.5%]

1

Deformities

Normal

6

Abnormal

Inversion: 46, XX, inv (9)

Mosaic: 45, XY, −10 [7%]/46, XY, r(10) (p15.3q26.3) [93%]

Trisomy: 47, XY, +21

3

Neurological disorders

Normal

2

Abnormal

Trisomy: 47, XY, +21

1

Neurological disorders and malformations

Normal

0

Abnormal

Trisomy: 47, XY, +21

1

Pubertal delay

Normal

1

Abnormal

Inversion: 46, XY, inv (9)

1

Suspicion of trisomy

Normal

1

Abnormal

Trisomy: 47, XY, +21

5

Suspicion of trisomy and cardiac pathology

Normal

0

Abnormal

Trisomy: 47, XY, +21

1

Total

29