Table 1 Incidence and type of chromosomal abnormalities in PA
From: Cytogenetic evaluation of primary amenorrhea: a study of 100 cases at tertiary centre
Sr. No | Cytogenetic category | Karyotype | Number (%) | ||
|---|---|---|---|---|---|
1 | Normal | 46,XX | 89 (89%) | ||
2 | Chromosomal abnormality | 11(11%) | |||
1 | Numerical abnormalities | 03 (27.3%) | |||
a | Pure Turner | 45,X | 02(18.2%) | ||
b | Mosaicism of X | mos 45,X/46,XY | 01(9.1%) | ||
2 | Structural abnormalities | 04 (36.4%) | |||
a | Deletion Xp | del(X)(p11.3) | 01(9.1%) | ||
b | Translocation | 46,XX,t(12;21)(q22;q22.3) | 01(9.1%) | ||
c | Ring X | mos 45,X/46,X,r(X) | 02(18.2%) | ||
3 | Male karyotype | 46,XY | 04(36.4%) | ||