Genetic Diseases

Question 1

Down’s syndrome = trisomy of which chromosomes

Answer 1

46, XX +21

Question 2

Patau’s syndrome = trisomy of which chromosomes

Answer 2

46, XX +13

Question 3

Edward’s syndrome = trisomy of which chromosomes

Answer 3

46, XX +18

E for eighteen

Question 4

Kleinefelter’s syndrome chromosomal anomaly =

Answer 4

XXY or XXXY

Question 5

Turner’s syndrome chromosomal anomaly =

Answer 5

XO

Question 6

Triple X syndrome chromosomal anomaly =

Answer 6

XXX

Question 7

Symptoms of Turner’s syndrome

Answer 7

(XO so all female)
webbed neck
ovaries absent or do not function 
short
skeletal deformaties 
broad chest + widely spaced nipples

Question 8

Symptoms of Triple X syndrome

Answer 8

(XXX so all female)

can range from no symptoms to learning disabilities, speech/language problems, intellectual disability

Question 9

What are the 3 different genetic basis for Down syndrome

Answer 9

95% trisomy 21
4% robertsonian translocation
1% mosaicism with normal and trisomy 21 cell lines

Question 10

What are the symtoms of Huntington disease

Answer 10

chorea 
athetosis (slow snake like movements usually in hands)
poor coordination 
personality changes 
depression 
dementia