Skip to main content
. 2019 Mar 14;69(5):457–461. doi: 10.1007/s13224-019-01209-3

Table 1.

Chromosomal analysis of patients with primary amenorrhoea (n = 3776)

Type of abnormality Karyotype Total no. of cases (%)
Normal karyotype 46, XX 2599 (68.8%)
Abnormal karyotype 1177 (31.2%)
Percentage out of total number of cases (n = 3776) Percentage out of abnormal cases (n = 1177)
Numerical abnormality 367/3776 (9.7%) 367/1177 (31.2%)
Pure monosomy X/turner syndrome 45, X 271/3776 (7.2%) 271/1177 (23.02%)
Turner mosaic mos 45, X/46, XX 63/3776 (1.7%) 63/1177 (5.4%)
Monosomy X and triple X mosaic

mos 45, X/47, XXX

mos 45, X/47, XXX/46, XX

mos 47, XXX/46, XX

33/3776 (0.9%) 33/1177 (2.8%)
XY female

46, XY

mos 45, X/46, XY/XYY

399/3776 (10.6%) 399/1177 (33.9%)
Structural abnormality 411/3776 (10.9%) 411/1177 (34.9%)
Isochromosome mos 45, X/46, X, i(Xq)/i(Xp)/46, XX 192/3776 (5.0%) 192/1177 (16.3%)

Translocations

X-autosomes

Autosomes

t(X;1), t(X;2), t(X;7), t(X;4), t(X;4;10), t(X;7), t(X;8), t(X;12), t(X;14), t(X;15), t(X;17), t(X;19), t(X;20)

t(7;10), t(1;20), t(1;17), t(11;20), t(22;22), t(11;19), t(13;21), t(3;15), t(3;18), t(1;8), t(2;20)

42/3776 (1.1%)

23/3776 (0.6%)

19/3776 (0.5%)

42/1177(3.6%)

23/1177 (1.9%)

19/1177 (1.6%)

Deletions

Xp

Xq

46, X, del (Xp)

46, X, del (Xq)

85/3776 (2.3%)

23/3776 (0.6%)

62/3776 (1.6%)

85/1177 (7.2%)

23/1177 (1.9%)

62/1177 (5.3%)

Ring chromosome mos 45, X/46, X, r(X)/46, XX 21/3776 (0.6%) 21/1177 (1.8%)
Marker chromosome mos 45, X/46, X, +mar/46, XX 22/3776 (0.6%) 22/1177 (1.9%)
Isodicentric mos 45, X/46, X, idic(X)/46, XX 22/3776 (0.6%) 22/1177 (1.9%)
Other structural abnormalities Duplication, inversion, etc. 27/3776 (0.7%) 27/1177 (2.3%)