Chromosomal mutations

Question 1

testing for chromosomal changes

Answer 1

diagnose & pinpoint mutations in cancer specimen & in genetic diseases

Question 2

Mutation

Answer 2

permanent change in the genetic material usually in a single gene
found in less than 1% of population
does not always result in a phenotypic change
p53 mutation in cancer specimens

Question 3

polymorphism

Answer 3

two or more genetically determined phenotypes in the same population
>1% of population
ABO blood type

Question 4

Genomic mutation

Answer 4

abnormal chromosome number

aneuploidy

Question 5

chromosmal mutation

Answer 5

abnormal chromosome structure

deletions, amplifications, rearrangements

Question 6

gene mutation

Answer 6

DNA sequence changes in specific genes
point mutations
deletions/insertions

Question 7

monosomy

Answer 7

one less chromosome = 45
rare & usually lethal
monosomy X = turner’s syndrome when baby has only 1 x chromosome

Question 8

Polysomy

Answer 8

extra chromosome =47 +
trisomy 21 = down’s syndrome
common in cancer cells