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physiology etc > Genetics > Flashcards

Genetics Flashcards

0
Q

Examples of autosomal dominant conditions

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

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

A

1 in 2

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2
Q

What is the chromosomal abnormality of Patau’s syndrome

A

Trisomy 13

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3
Q

What is the mode of inheritance of haemophilia?

A

X linked

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4
Q

What mode of inheritance has to Duchenne’s muscular dystrophy

A

X-linked

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

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5
Q

Inheritance pattern of homocystinuria

A

Autosomal recessive

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6
Q

Inheritance pattern of acute intermittent porphyria

A

Autosomal dominant

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7
Q

Inheritance pattern of haemophilia and colourblindness

A

X-linked

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8
Q

Inheritance pattern of glucose 6 phosphate dehydrogenase deficiency

A

X linked

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9
Q

Inheritance pattern of hurlers syndrome

A

Autosomal recessive

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10
Q

Inheritance pattern of 21 hydroxylase deficiency

A

Autosomal recessive

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11
Q

Inheritance pattern of glycogen storage disease

A

Autosomal recessive

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12
Q

Inheritance pattern of multiple polyposis

A

Autosomal dominant on chromosome 4

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13
Q

Inheritance pattern of haemophilia A

A

X linked recessive

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14
Q

Inheritance pattern of congenital adrenal hyperplasia

A

Autosomal recessive

Sometimes X linked recessive

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15
Q

Inheritance pattern of Hypophosphataemic vitamin D resistant Ricketts

A

X linked dominant

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16
Q

Inheritance pattern of ichthyosis

A

Autosomal dominant

Sometimes X linked recessive

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17
Q

Inheritance pattern of Tay Sachs disease

A

Autosomal recessive

18
Q

Inheritance pattern of Wiskott-Aldrich syndrome

A

X-linked recessive

19
Q

Inheritance pattern of Hunter’s syndrome

A

X linked recessive

20
Q

In x-linked recessive conditions which gender is affected?

A

Male only

21
Q

In X linked dominant conditions which gender is affected?

A

Both are equally affected

22
Q

Inheritance pattern of achondroplasia

A

Autosomal dominant

23
Q

Inheritance pattern of huntington’s disease

A

Autosomal dominant

24
Q

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?

A

Non-will be affected

All Will be carriers

25
Q

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

A

1/4

26
Q

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

A

100%

27
Q

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

A

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

28
Q

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

A

Fragile X syndrome

29
Q

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

A

Huntington disease

30
Q

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

A

Myotonic dystrophy

31
Q

Features of acromegally

A 
Large hands and feet
Macroglossia
Abnormal enlargement of organs
Prognathism
Hypercalciuria 
Proximal myopathy
Optic chiasm compression --> Bitemporal hemianopia
32
Q

Features of Patau’s syndrome (trisomy 13)

A 
Motor and mental retardation
Microcephaly
Cleft lip and palate
Polydactyly
Cardiac defects
Low set ears
Survival up to 3 weeks
33
Q

What is a Barr body

A

The inactivated X chromosome in a female

34
Q

What is multiple endocrine neoplasia type one associated with

A

Pituitary tumours
Parathyroid tumours
Pancreatic tumours

35
Q

What is multiple endocrine neoplasia type 2 associated with

A

Medullary thyroid cancer

36
Q

Karyotype in Klinefelter’s disease

A

XXY

37
Q

Genetic abnormality in cri du chat syndrome

A

Deletion on chromosome 5p

38
Q

What is gonadal dysgenesis an alternative term for

A

Turner’s syndrome

39
Q

Karyotype in Turner’s syndrome

A

XO

40
Q

What is brachydactyly

A

Short fourth metacarpal

41
Q

What is di-George syndrome

A

Absent parathyroids
Absent thymus
Deletion on 22q

42
Q

Features of acromegaly

A 
Large hands and feet
Macroglossia
Abnormal organ enlargement 
Prognathism 
Hypercalciuria
43
Q

Which genetic conditions demonstrate anticipation

A

Huntington’s chorea
Fragile x
Myotonic dystrophy

physiology etc (7 decks)

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