lecture 7 aneuploidy x activation Flashcards
1
Q
karyotype
A
an ordered, visual representation of the chromosomes in a cell (take blood sample, mitogen, colchicine, stain)
2
Q
down syndrome
A
(trisomy 21)
effects: growth failure mental retardation etc
cause: non-disjunction, 2 maternal chromosome 21
3
Q
klinefelter syndrome
A
(XXY)
males with an extra X chromosome
4
Q
Turner syndrome
A
(XO)
females- missing an X chromosome
5
Q
prenatal diagnosis of Aneuploidy
A
aminocentesis- sample of amniotic fluid examined
chorionic villus sampling- sample chorionic villi cells test
6
Q
X Inactivation (lyonisation) inactive Barr body
A
dosage compensation
one female X chromosome is turned off so that they have the same amount of gene product as males
7
Q
diseases on X chromosome
A
males more susceptible as only need one copy of gene to get disease
