Aneuploidy
Abnormal chromosome number
- Chr # not an exact multiple of haploid #
Types of aneuploidy
Trisomy 21
Most prevalent viable aneuploidy (0.15% of all live births)
- down syndrome
- common traits: heart defects/hearing deficits, etc.
- has considerable phenotypic variation
Trisomy 18 & 13
Die shortly after birth
- Edwards & patau syndrome
Maternal age = 20
Risk of DS & any chromosomal abnormalities
DS: 1/1667
Any: 1/526
Maternal age = 30
Risk of DS & any chromosomal abnormalities
DS: 1/952
Any: 1/385
Maternal age = 35
Risk of DS & any chromosomal abnormalities
DS: 1/378
Any: 1/192
Meiosis
Meiosis II
Meiosis I
Disjunction
Non-disjunction
when separation & segregation DO NOT OCCUR
- aneuploidy