Disorders

Question 1

What does disjunction lead to

Answer 1

Gametes have an abnormal chromosomal number

Question 2

What is Aneuploidy

Answer 2

Abnormal chromosome number

Question 3

What is trisomy

Answer 3

Extra chromosome

Question 4

What is trisomy 21

Answer 4

Down syndrome

Question 5

What is sex linked Aneuploidy

Answer 5

Extra sex chromosome

Question 6

What are gonosomes

Answer 6

Sex chromosomes

Question 7

XXY is called

Answer 7

Klinefelter

Question 8

Monosomy

Answer 8

Missing a chromosome

Question 9

Turner syndrome is

Answer 9

Mono X, XO in females

Question 10

Abnormal chromo structure is due to what

Answer 10

Errors during meiosis such as DNA breakage/mutation due to external factors

Question 11

Name for ways DNA can alter

Answer 11

Deletion, duplication, inversion, translocation

Question 12

Autosomal dominant trait disorders

1) which sexes 2) generations 3) % of offspring 4) extra

Answer 12

1) both sexes 2) Doesn’t skip gen 3) 1 parent is hetero then 50%

Question 13

Autosomal recessive trait disorders

1) which sexes 2) generations 3) % of offspring 4) extra

Answer 13

1) both sexes 2) skips 3) 25% 4) incest

Question 14

X linked dominant trait disorders

1) which sexes 2) generations 3) % of offspring 4) extra

Answer 14

1) females > males 2) Doesn’t skip 3) mother hetero then 50% 4) affected fathers always affect daughters, sons can be affected by either parent

Question 15

X linked recessive trait disorders

1) which sexes 2) generations 3) % of offspring 4) extra

Answer 15

1) males > female 2) skip gen 3) 50% 4) daughters of affected fathers are carries, sons never get from father, affected sons born to affected mothers

Question 16

Y linked traits

Answer 16

All males and doesn’t skip

Question 17

Autosomal disorders affect what sexes

Answer 17

Both

Question 18

Dominant disorders don’t

Answer 18

Skip generations

Question 19

X recessive and dominant affect which sexes

Answer 19

Dominant is more females, recessive is males

Question 20

Example of 1) AR Disorder 2) XD Mutation 3) XR Disorder

Answer 20

1) sickle cell, poly cystic kindney, cystic fibrosis, incest 2) Autism fragile X, mental retardation in males 3) haemophilia, colour blindness

Question 21

Y linked mutation in SRY, 2 examples

Answer 21

XX males have SRY

XY females are missing SRY

Question 22

Mutation in X linked, example and explain

Answer 22

Androgen insensitivity syndrome, XY genetically male but mutation in X prevents detection of testosterone Tfm

Question 23

What is nondisjunction

Answer 23

One gamete receives two of the same type of chromosome and another gamete receives no copy