genetics

Question 1

what causes down syndrome

Answer 1

three copies of chromosome 21

Question 2

what is another name for down syndrome

Answer 2

trisomy 21

Question 3

name some distinctive facial features of down syndrome

Answer 3

prominent tongue
flattened face and nose
brushfield spots

Question 4

what are brushfield spots

Answer 4

small spots in a circular arrangement on the edges of the iris

Question 5

name some complications of down syndrome

Answer 5

recurrent otitis media
deafness
cardiac defects
leukaemia
dementia
atlantoaxial instability

Question 6

name 2 genetic causes of severe obestiy

Answer 6

prader-willi syndrome
bardet-biedel syndrome

Question 7

inheritance seen in bardet-biedel syndrome

Answer 7

autosomal recessive

Question 8

clinical presentation of bardet-biedl syndrome

Answer 8

visual impairment
renal abnormalities
polydactyly
learning dificulties
hypogonadism
obesity
hyperphagia

Question 9

what chromosome is effected in prader-willi syndrome

Answer 9

15

Question 10

presentation of prader-willi syndrome at birth

Answer 10

very floppy
weak or absent ability to suck

Question 11

presentation of prader-willi syndrome in childhood

Answer 11

hyperphagia and reduced energy requirements due to low muscle tone

Question 12

what is hyperphagia

Answer 12

food seeking and lack of satiety