Human Aneuploid Conditions
| Condition | Formula | Nomenclature |
Birth Frequency |
Phenotype |
|---|---|---|---|---|
| Down's Syndrome | 2n+1 | 47,+21 | 1/700 | Round, broad head; simian palm crease; narrow, high palate; low IQ |
| Edward's Syndrome | 2n+1 | 47,+18 | 1/7,500 | Mental retardation; multiple congenital defects of all organs; death within 6 months |
| Patau's Syndrome | 2n+1 | 47,+13 | 1/15,000 | Similar to Edward's; death within 3 months |
| Turner's Syndrome | 2n-1 | 45,X | 1/2,000 | Retarded development of female sex females organs; sterility |
| Klinefelter's Syndrome |
2n+1 2n+2 2n+2 2n+3 2n+4 |
47,XXY 48,XXXY 48,XXYY 49,XXXXY 50,XXXXXY |
Poor male sex organ development; breast males development; subfertile |
Condition Formula Nomenclature BirthFrequencey Phenotype
Down's Syndrome 2n+1 47,+21 1/700 Round, broad head; simian palm crease; narrow, high palate; low IQ
Edward's Syndrome 2n+1 47,+18 1/7,500 Mental retardation; multiple congenital defects of all organs; death within 6 months
Patau's Syndrome 2n+1 47,+13 1/15,000 Similar to Edward's; death within 3 months
Turner's Syndrome 2n-1 45,X 1/2,000 Retarded development of female sex females organs; sterility
Klinefelter's Syndrome 2n+12n+22n+22n+32n+4 47,XXY48,XXXY48,XXYY49,XXXXY50,XXXXXY Poor male sex organ development; breast males development; subfertile
