Genetics

Question 1

acrocentric centromeres

Answer 1

p arms do not contain critical information

chromosomes 13, 14, 15, 21, 22, Y

Question 2

Robertsonian translocation

Answer 2

fusion of q arms from 2 acrocentric chromosomes with loss of p arms

• balanced
• karyotype will present with fewer chromsomes

Question 3

anticipation

Answer 3

appearance of a disease at earlier age (and increased severity of disease) as it is transmitted through a family

only applies to repeat mutations, not inherited microdeletions

Question 4

genomic imprinting

Answer 4

introduction of epigenetic marks in germline of only one parent

leads to monoallelic expression of certain genes (from non-imprinted allele)

Question 5

pleiotropy

Answer 5

multiple physical effects caused by mutations in a single gene

Question 6

penetrance, variable expressitivity

Answer 6

autosomal dominant diseases only