Genetics

Question 0

Examples of autosomal dominant conditions

Answer 0

Autosomal dominant polycystic kidney disease
Huntington's chorea
Myotonic dystrophy
Multiple endocrine neoplasia type 1
Marfan's
Familial hypercholesterolaemia

Question 1

What is the risk of passing on Autosomal dominant polycystic kidney disease from a father to their child

Answer 1

1 in 2

Question 2

What is the chromosomal abnormality of Patau’s syndrome

Answer 2

Trisomy 13

Question 3

What is the mode of inheritance of haemophilia?

Answer 3

X linked

Question 4

What mode of inheritance has to Duchenne’s muscular dystrophy

Answer 4

X-linked

Deletion of chromosome material on the short arm of the X chromosome

Question 5

Inheritance pattern of homocystinuria

Answer 5

Autosomal recessive

Question 6

Inheritance pattern of acute intermittent porphyria

Answer 6

Autosomal dominant

Question 7

Inheritance pattern of haemophilia and colourblindness

Answer 7

X-linked

Question 8

Inheritance pattern of glucose 6 phosphate dehydrogenase deficiency

Answer 8

X linked

Question 9

Inheritance pattern of hurlers syndrome

Answer 9

Autosomal recessive

Question 10

Inheritance pattern of 21 hydroxylase deficiency

Answer 10

Autosomal recessive

Question 11

Inheritance pattern of glycogen storage disease

Answer 11

Autosomal recessive

Question 12

Inheritance pattern of multiple polyposis

Answer 12

Autosomal dominant on chromosome 4

Question 13

Inheritance pattern of haemophilia A

Answer 13

X linked recessive

Question 14

Inheritance pattern of congenital adrenal hyperplasia

Answer 14

Autosomal recessive

Sometimes X linked recessive

Question 15

Inheritance pattern of Hypophosphataemic vitamin D resistant Ricketts

Answer 15

X linked dominant

Question 16

Inheritance pattern of ichthyosis

Answer 16

Autosomal dominant

Sometimes X linked recessive

Question 17

Inheritance pattern of Tay Sachs disease

Answer 17

Autosomal recessive

Question 18

Inheritance pattern of Wiskott-Aldrich syndrome

Answer 18

X-linked recessive

Question 19

Inheritance pattern of Hunter’s syndrome

Answer 19

X linked recessive

Question 20

In x-linked recessive conditions which gender is affected?

Answer 20

Male only

Question 21

In X linked dominant conditions which gender is affected?

Answer 21

Both are equally affected

Question 22

Inheritance pattern of achondroplasia

Answer 22

Autosomal dominant

Question 23

Inheritance pattern of huntington’s disease

Answer 23

Autosomal dominant

Question 24

If an affected person of an autosomal recessive condition marries a normal individual, how many of their offspring will be affected and how many will be carriers?

Answer 24

Non-will be affected | All Will be carriers

Question 25

If both parents are heterozygotes for an autosomal recessive condition how many of their offspring will be affected?

Answer 25

1/4

Question 26

If two people with an autosomal recessive condition carry the same gene defect, what percentage of their children will be affected?

Answer 26

100%

Question 27

If both parents are heterozygote for an autosomal recessive condition what percentage of the children will be affected, carriers or normal

Answer 27

25% will be affected, 50% will be carriers, 25% normal

Question 28

What disease is characterised by expansions of the CGG tri-nucleotide?

Answer 28

Fragile X syndrome

Question 29

What disease is characterised by expansions of the CAG tri-nucleotide?

Answer 29

Huntington disease

Question 30

What disease is characterised by expansions of the CTG tri-nucleotide?

Answer 30

Myotonic dystrophy

Question 31

Features of acromegally

Answer 31

``` Large hands and feet Macroglossia Abnormal enlargement of organs Prognathism Hypercalciuria Proximal myopathy Optic chiasm compression --> Bitemporal hemianopia ```

Question 32

Features of Patau's syndrome (trisomy 13)

Answer 32

``` Motor and mental retardation Microcephaly Cleft lip and palate Polydactyly Cardiac defects Low set ears Survival up to 3 weeks ```

Question 33

What is a Barr body

Answer 33

The inactivated X chromosome in a female

Question 34

What is multiple endocrine neoplasia type one associated with

Answer 34

Pituitary tumours Parathyroid tumours Pancreatic tumours

Question 35

What is multiple endocrine neoplasia type 2 associated with

Answer 35

Medullary thyroid cancer

Question 36

Karyotype in Klinefelter's disease

Answer 36

XXY

Question 37

Genetic abnormality in cri du chat syndrome

Answer 37

Deletion on chromosome 5p

Question 38

What is gonadal dysgenesis an alternative term for

Answer 38

Turner's syndrome

Question 39

Karyotype in Turner's syndrome

Answer 39

XO

Question 40

What is brachydactyly

Answer 40

Short fourth metacarpal

Question 41

What is di-George syndrome

Answer 41

Absent parathyroids Absent thymus Deletion on 22q

Question 42

Features of acromegaly

Answer 42

``` Large hands and feet Macroglossia Abnormal organ enlargement Prognathism Hypercalciuria ```

Question 43

Which genetic conditions demonstrate anticipation

Answer 43

Huntington's chorea Fragile x Myotonic dystrophy