aneuploidy Flashcards
aneuploidy
diploid genome which lacks a chromosome or has an extra chromosome
how is aneuploidy different from polyploidy
organism gains or is missing a single chromosome whereas in polyploidy all sets are affected
trisomies
2N+1
- diploid for all chromosomes but +1 chromosome for one of the homologous groups
- some result in aborted embryo
monosomies
2N-1
- diploid for all chromosomes but -1 for one of the homologous groups
when is it a possibility for trisomies or monosomies to be viable
when they are sex chromosomes
cause of aneuploidy
meitotic or meiosis non disjunction
aneuploidy from nondisjunction in meiosis I
- all gametes are wrong
- homologous pairs do not disjoin
- final zygotes are 2 trisomies and 2 monosomies
- all monosomies are aborted except sex chromosomes
aneuploidy from nondisjunction in meiosis II
- half the gametes are wrong
- sister chromatids will not disjoin
- final zygotes are 1 trisomie, 1 monosomie and 2 normal diploids
- if happens to one cell usually doesn’t happen to the other - low frequency event
autosomal trisomies that are seen as live births
trisomy 21 (down syndrome)
trisomy 13 (Patau syndrome)
trisomy 18 (Edwards syndrome)
- only those with trisomy 21 can live into adulthood
down syndrome karyotype
- chromosome 21 is one of the smallest chromosomes
- most trisomy can be tolerated because it is the smallest amount of extra genes - still bad but the least bad
Aneuploidy in sex chromosomes
- trisomy and monosomy can be tolerated
- comes from X inactivation
XO - turner syndrome
- female with a single X
- can be caused by the mom or dad
- 2n - 1
XXY - klein felter syndrome
- male with an extra X
- 1 barr body
- mom could give XX or day could give XY
- if from dad, nondisjunction in meiosis I
- some female hormones are heightened
XXX - triple X syndrome
- female with an extra X
- mom gives XX
- 2 barr bodies
XYY - double Y males
- male with an extra Y
- gets YY from dad, nondisjunction in meiosis II
- most common phenotype = very tall (due to extra hormones)