Chromosomal Aberrations Flashcards
chromsome in edward syndrome
18
chromsome in patae
13
structural abnormamlities occur in how many pregancyes
0.5%
structual abnoramlites occur in how many live births
0.2%
what are the 2 processes that generate structural chromsomal aberrations
healing of DNA double strand breaks
unblanced recombination
how do you get cri0du0chat
delection of chromsome 5
how do you get di george
microdelection of chromsome 22
symptoms of crr-du-chat
microcephaly
hypertelorism
micrognathia
secere mental retardation
symptoms of di geroge
immunodefiency
mental retardation
cleft palate
how do you get philadelphia chromsome
translocation between chromosomes 9 and 22
chimeric BCcr/Abl protein does what
dchronic myelongeous leukima
robertsonian translocation
long and short arms of 2 chromsomes are exchanged
most frequenct chromsomal rearrangement inhumans
robertsonian translocation involving chromsomes 13q and 14q
inversion
chromosomes suffers 2 breaks and broken off fragment is re-inserted in the wrong orientation
how does inversion affect the carrier
usually doesnt, but can have problems in offspring
balanced alternation
chromosomal rearrangement that does not change the amount of DNA in the affected cell
unbalanced alternation
change that reduces or increaes the amount of DNA per cell
are carriers of blanced alterations aware of their condition
no, but it can affect reproduction
how many pregancies have abnoraml chromsomes
1/800
when would you do karyotyping
problems of early growth/development
stillbirth
fertility problem
pregnancy with advanced maternal age
chromsomal abnoramliy is present in how many stillborn infacts
10%
what cells do you use for karyotyping
live cells from patient - usually lymphocytes
what stains do you use for karyotyping
geimsa, FISH
