10.2 Flashcards
what are the types of chromosome number variations?
aneuploidy (change in number of INDIVIDUAL chromosomes)
polyploidy (change in number of SETS of chromosomes)
what is the difference between ___somy and ___ploidy?
somy - number of particular chromosomes
ploidy - total number of chromosomes
what the most common types of aneuploidy in diploids (2n)?
nullisomy (lose both)
monosomy (lose one)
trisomy (gain one)
tetrasomy (gain both)
what is double-monosomic?
lose two non-homologous chromosomes
what is double trisomic?
gain two non-homologous chromosomes
how does aneuploidy occur?
nondisjunction and deletions of centromeres
what is nondisjunction?
failure of homo chromosomes or sister chromatids to seperate
what is the outcome of non-disjunction?
trisomy - may be viable
monosomy - only viable for sex chromosomes
what is Turner syndrome?
monsomy X
what is klinefelter syndrome?
extra copies of X
what is edwards syndrome?
trisomy 18
what is patau syndrome?
trisomy 13
what is primary down syndrome?
trisomy 21
most common type
usually random non-disjunction in mom
what is familial down syndrome?
extra chromosome 21 is attached to another chromosome (14 or 15 usually)
3-4% of cases
how does familial down syndrome happen?
parent carries chromosome that underwent robertsonian translocation (exchange of long arms of non-homologous acrocentric chromosomes)