Genetic conditions

Question 1

cause of cystic fibrosis

Answer 1

mutation in CFTR gene which controls the movement of salt and water in and out of cells resulting in a build up of sticky mucus in lungs and digestive system

Question 2

how is Cystic fibrosis diagnosed

Answer 2

heel prick test and sweat test

Question 3

when is heel prick test done

Answer 3

at 5 day old

Question 4

inheritance of cystic fibrosis

Answer 4

autosomal recessive

Question 5

symptoms of CF

Answer 5

• diarrhoea prolonged
• meconium ileus in newborn
• malabsorption –> failure to thrive
• male infertility + female sub-fertility
• chronic resp infections

Question 6

what does pancreatic insufficiency result in

Answer 6

protein and fat not absorbed

• poor weight gain
• failure to thrive
• steatorrhoea

Question 7

inheritance of Duchenne muscular dystophy

Answer 7

x linked recessive

genetic mutation in dystrophin gene

Question 8

complications of duchenne muscular dystrophy

Answer 8

• cardiomyopathy
• resp failure
• scoliosis
• osteoporosis
• learning disability

Question 9

clinical sign of DMD

Answer 9

positive gower’s sign

Question 10

clinical features of DMD

Answer 10

• speech delay
• motor skill difficulties
• muscle wasting
• calf hypertrophy
• scoliosis
• learning disabilities in 1/3
• tiptoeing gait (prior to weakness)

Question 11

diagnosis of DMD

Answer 11

raised creatine kinase

Question 12

treatment of DMD

Answer 12

steroids; delay progression; has shown to delay the loss of walking significantly by average of 2 years

Question 13

role of dystophin protein

Answer 13

structural link between muscle fibres; lack of this protein leads to progressive deterioration of muscle structure

Question 14

what is becker muscle dystrophy

Answer 14

results from a dif alteration in dystrophin gene characterised by muscle weakness of later onset and most individuals remain ambulatory into 20s

Question 15

side effect of steroids

Answer 15

• increased apetite
• HTN
• growth failure
• bone thinning
• GI irritation

Question 16

neurofibromatosis t1

Answer 16

autosomal dominant

Question 17

huntington’s chorea

Answer 17

autosomal dominant

Question 18

thalassaemia

Answer 18

autosomal recessive

Question 19

haemophila a

Answer 19

x linked

Question 20

downs sydnrome

Answer 20

non dysjunction: failure of separation of chromosomes

Question 21

microcephaly, small eyes, low set ears & cleft palate & polydactyly

features of what syndrome?

Answer 21

Patau syndrome

Question 22

what chromosomal abnormality results in patau syndrome?

Answer 22

chromosomal abnormality resultign in an extra full copy of chromosome 13

Question 23

micrognathia is a feature of which 2 syndromes

Answer 23

• Edwards syndrime

- pierre-robin syndrome

Question 24

features of edwards syndrome?

Answer 24

• rocker bottom feet
• overlapping fingers
• micrognathia
• low set ears

Question 25

edwards syndrome is trisomy __

Answer 25

18

Question 26

features of fragile X syndorme?

Answer 26

- learning difficulties - macrocephaly - long face - large ears - macro-orchidism

Question 27

large face & long ears & macro-orchidism?

Answer 27

Fragile X syndrome

Question 28

pectus excavatum is a features of which syndrome?

Answer 28

Noonan syndrome

Question 29

appearance of noonan syndrrome?

Answer 29

- webbed neck - pectus excavatum - short stature - pulmonary stenosi

Question 30

pulmonary stenosis is part of which syndrome?

Answer 30

Noonan syndrome

Question 31

syndrome with posible airway obstruction & why?

Answer 31

Pierre-robin syndrome - posterior displacement of tongue - micrognathia

Question 32

triad of prader willi syndrome?

Answer 32

- obesity - hypogonadism - hypotonia

Question 33

cardiac abnormality in williams syndrome

Answer 33

Supravalvular aortic stenosis

Question 34

pain on what movement in perthes disease?

Answer 34

pain on internal rotation of hip