Research Article

The Cut-Off Value of Serum Anti-Müllerian Hormone Levels for the Diagnosis of Turner Syndrome with Spontaneous Puberty

Table 1

Chromosomal karyotypes of 95 TS patients (age 4–17 years).

KaryotypenPercentage (%)

45, X4143.2

Mosaicism1616.8
45, X/46, XX10
45, X/46, XXX2
45, X/47, XXX3
45, X/46, XX/47, XXX1

Mosaicism with SCA1717.9
45, X/46, X, i (X) (q10)6
45, X/46, XX, +Mar3
45, X/46, X, r (X)2
45, X/46, X, del (X) (p10)1
45, X/46, X, del (X) (p11.2)1
45, X/46, X, i (Xq)2
45, X/46, X, i (q10)/47, X, i (q10)2

SCA1616.8
46, X, i (X) (q10)10
46, X, del (X) (q21)1
46, X, del (X) (q22)1
46, X, del (X) (p10)1
46, X, del (X) (q113)1
46, XX, del (X) (p11)1
46, X, add (X) (p21)1

Y chromosome material55.3
45, X/46XY2
45, X/45, XY1
45, X/47, XYY1
45, X/46XY/47, XYY1

SCA: structural X chromosome abnormalities; Mosaicism with SCA: mosaicism with structural X chromosome abnormalities.