6LP. Genome mutations

Question 1

Changes in chromosome number (numerical aberrations)

Answer 1

euploidy, polyploidy, aneuploidy, mixoploidy(mosaicism, chimerism)

Question 2

Euploidy definition

Answer 2

k

Question 3

Polyploidy definition

Answer 3

k

Question 4

Aneuploidy definition

Answer 4

k

Question 5

Mixoploidy definition

Answer 5

(mosaicism, chimerism)

Question 6

Possible cause of aneuploidy

Answer 6

k

Question 7

Role of non-disjunction in meiosis I and II

Answer 7

k

Question 8

Autosomal trisomies

Answer 8

(Patau, Edwards and Down syndromes)

Question 9

Patau syndrome

Answer 9

Autosomal trisomy of chromosome 13

Only few main symptoms!

Question 10

Edwards syndrome

Answer 10

Autosomal trisomy of chromosome 18

Only few main symptoms!

Question 11

Down syndrome

Answer 11

Autosomal trisomy of chromosome 21

Only few main symptoms!

Question 12

Numerical aberrations of sex chromosomes

Answer 12

Klinefelter, XYY, triplo X, Turner syndromes

Question 13

Klinefelter syndrome

Answer 13

Numerical aberration of sex chromosome: XXY

Only few main symptoms!

Question 14

XYY and triplo X syndromes

Answer 14

Numerical aberrations of sex chromosomes

Only few main symptoms!

Question 15

Turner syndrome

Answer 15

Numerical aberration of sex chromosome: X0

Only few main symptoms!

Question 16

Uniparental disomy (UDP)

Answer 16

k

Question 17

Cause and consequence of of polyploidy

Answer 17

k

Question 18

Cause and consequence of mixoploidy (mosaicism and chimerism).

Answer 18

k