TABLE 2.
Distribution of Turner syndrome karyotype by pregnancy outcome (N = 1872).
| Karyotype | Totala(%) | Live births and stillbirths only (%) |
|---|---|---|
| 45,X | 1412 (75.4) | 792 (69.2) |
| Mosaicism | ||
| 45,X/46,XX | 123 (6.6) | 76 (6.6) |
| 45,X/47,XXX or 45,X/46,XX/47,XXX | 27 (1.4) | 25 (2.2) |
| 45,X/47,XXX or 45,X/46,XX/47,XXX | 27 (1.4) | 25 (2.2) |
| 45,X/46,XY | 23 (1.2) | 16 (1.4) |
| Structural abnormalities of the X | ||
| 46,XX,del(Xp22.3) | 20 (1.1) | 18 (1.6) |
| 46,X,r(X)/46,XX | 47 (2.5) | 36 (3.1) |
| 46,X,i(Xq) or 46,X,idic(Xp) | 55 (2.9) | 48 (4.2) |
| Otherb | 30 (1.6) | 27 (2.4) |
| Not otherwise specified | 135 (7.2) | 107 (9.3) |
a
Live births, stillbirths (fetal death ≥20 weeks gestation), and other pregnancy losses (elective termination at any gestational age and miscarriage <20 weeks gestation).
b
“Other” includes cases with rare karyotypes that did not fit within the other karyotype classifications.