Genetics Flashcards
1
Q
Telangiectasia
A
Small, widened blood vessels.
2
Q
Klinefelter syndrome karyotype
A
47 chromosomes
22 + XXY
3
Q
Philadelphia Chromosome
A
t:(9;22)
Present in >95% of CML patients
4
Q
What is the normal function of the BRCA gene?
A
Tumour suppressor gene
5
Q
What is the usual age of onset of cystic fibrosis?
A
< 10 months
6
Q
Turner syndrome karyotype
A
45 chromosomes
22 + X
7
Q
Asterixis
A
Type of negative myoclonus characterised by irregular lapses of body posture in certain areas (e.g. hand flap)
8
Q
Purines
A
Adenine
Guanina
9
Q
Pyrimidines
A
Cytosine
Thymine
Uracil
