Genetics

Question 1

What type of condition is Duchenne muscular dystrophy?

Answer 1

X-linked recessive

Question 2

When one uses one hand to work up their body from the floor is called?

Answer 2

Gower sign

Question 3

Characteristics of Duchenne muscular dystrophy?(3)

Answer 3

1.Elevated CK
2.occurs between the age of (4-8)
3.delayed milestone—Walking or running

Question 4

What test for cystic fibrosis before pregnancy?

Answer 4

Preimplantation genetic diagnosis

Question 5

What kind of conditions are Autosomal dominant?(3)

Answer 5

Neurofibromatosis
Huntington
Polycystic kidney disease
Breast cancer

Question 6

What condition is Autosomal recessive?(5)

Answer 6

Haemochromatosis
Sickle cell Anemia
Cystic fibrosis
Thalassaemia
Congenital Adrenal hyperplasia

Question 7

Characteristics of neurofibromatosis(3)

Answer 7

Cafe au lait spot
Axillary or groin freckle

Question 8

Complicated of Polycystic kidney disease

Answer 8

Cerebral Aneurysm that bleeds causing subarachnoid haemorrhage

Question 9

Edward syndrome is also called?

Answer 9

Trisomy 18

Question 10

Characteristics of Edward syndrome (4)

Answer 10

Prominent calceneous
Prominent occipital
Microcephaly
Micrognathia(small jaw)

Question 11

Another name for turner syndrome is

Answer 11

45X0

Question 12

Characteristics of Turner syndrome (4)

Answer 12

Webbed neck
Short stature
Estrogen will be low(ovarian failure)
Fsh and LH will be high

Question 13

What gene is associated with Alzheimer’s disease?

Answer 13

Apolipoprotein E (APOE)

Question 14

When do you perform chorionic villi sampling?

Answer 14

11-14 weeks gestation

Question 15

When do you perform Amniocentesis?

Answer 15

15-18 weeks gestation

Question 16

Where is the defect of Duchenne muscle dystrophy found?

Answer 16

Striated muscle(Miscle fibre membrane

Question 17

Affection of breast or prostate gland is related to what mutation?

Answer 17

BRCA 2

Question 18

What is Chorea?

Answer 18

It is right handed involuntary writhing movement and it is related to Huntington syndrome

Question 19

What are the features for Ehler Danlos syndrome?(2)

Answer 19

1.Hyperelasticity of skin
2.Joint hyper mobility

Question 20

What is Wilson’s diseas

Answer 20

It is a generic disorder associating with the deposition of Copper in the body (Kayser Fleischer ring)

Question 21

What is prader willi syndrome?

Answer 21

It is characteristic with obsessive eating so obese ,learning difficulties and growth abnormalities

Question 22

Down’s syndrome is characterised by?

Answer 22

1.Duodenal atresia
2. Double bubble sign
Flat occipit

Question 23

Characteristics of kleinfacter syndrome

Answer 23

Gynemastia
Hypogonadism
Tall and slim
Test is Karotyping