Table 1.
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%) |