| Term | Definition |
| Klinefelter's Syndrome | (47, XXY); 1/1000 live births, may appear physically normal until puberty, small genitalia and underdeveloped secondary sexual characteristics, tall and thin with long limbs, gynecomastia (breast enlargement) in some patients, almost always infertile, increased risk of psychological/intellectual difficulties |
| Turner's Syndrome | 50% have 45, X0 karyotype, 25% are mosaic, 1/4000 live births, short stature, gonadal dysgenesis (sterile streaked gonads), webbed neck and wide spaced nipples, risk of cardiac and renal abnormalities, average or above intelligence, but difficulties with spatial perception (math deficiency) |
| 47, XYY Syndrome | 1/1000 live births, tall with normal physical appearance, normal intelligence but average IQ 10-15 below normal average |
| Trisomy X Syndrome | (47,XXX), 1/1000 live births, normal but somewhat tall appearance, usually fertile, significant IQ deficit, frequent learning problems, mild behavioral problems sometimes apparent |