Sex chromosome anomalies
Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes.
In humans this may refer to:
| Anomaly | Frequency |
| 45, X, also known as Turner syndrome | 1 in 2,000-5,000 |
| 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis | 1 in 15,000 |
| 46, XX/XY | |
| 47, XXX, also known as trisomy X or triple X syndrome | 1 in 1,000 |
| 47, XXY, also known as Klinefelter syndrome | 1 in 500-1,000 |
| 47, XYY, also known as Jacobs syndrome | 1 in 1,000 |
| 48, XXXX, also known as tetrasomy X | 1 in 50,000 |
| 48, XXXY | 1 in 50,000 |
| 48, XXYY | 1 in 18,000-40,000 |
| 48, XYYY | 12 recorded cases |
| 49, XXXXY | 1 in 85,000-100,000 |
| 49, XYYYY | 7 recorded cases |
| 49, XXXXX, also known as pentasomy X | 1 in 85,000-250,000 |
| 46, XX gonadal dysgenesis | |
| 46, XY gonadal dysgenesis, also known as Swyer syndrome | 1 in 100,000 |
| 46, XX male syndrome, also known as de la Chapelle syndrome | 1 in 20,000 |
In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell.