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IMS -izzy > Clinical genetics > Flashcards

Clinical genetics Flashcards

1
Q

How many organs affected in multifactorial?

A

1 organ

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2
Q

What factors make you susceptible to a multifactoral disease

A

Gene and enviroment

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3
Q

What is a compound heterozygous

A

Both alleles affected

Different mutations

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4
Q

Where is the deletion in sentinel deafness (SG)

A

G deletion in connexin 26

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5
Q

What is mutated in Familial Hypercholesterolaemia (FH) what affect does this have? (SG)

A

LDL receptor
> Cholesterol not taken into tissue
>Elevated LDL cholesterol plasma levels

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6
Q

FH symptoms (SG)

A

> Cholesterol Xanthelasma
Archs of cholesterol
Premature atherosclerosis

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7
Q

FH treatment (SG)

A

> Inhibit HMG-co A reductase

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8
Q

Downs syndrome symptoms (chr)

A 
>Round Face
> Protruding tongue
>Upslanting Palpera fissures
>Epicanthic Folds
>Development Delay
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9
Q

Downs syndrome on ultra sound (chr)

A 
>Short femurs
>Knuckle translucency
>Choroid plexus cyst
>Sandal Gap
>Single palmer crease
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10
Q

Cause of Di George (chr)

A

> Microdeletion chr 22

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11
Q

Symptoms of Di george (chr)

A

> Congenital heart defects
Small mouth
Prominent Nose

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12
Q

Cause of williams-Beuren (chr)

A

> Micro deletion chr 7

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13
Q

Williams- Beuren symptoms (chr)

A 
>Bright eyes
>Stellate iris
>Wide mouth
>Upturned nose
>Long Philtrum
>Flattened nasal bridge
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14
Q

Give examples of variable Expressivity

A

Huntington
Neurofibromatosis
>Cafe au lait spots
>Benign neurofibromas

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15
Q

Phenylketonuria symptoms

A 
>Epilepsy
>Musty/ mousy odour
>Extrapyramidal Manifestations
>Impaired melanin synthesis
>Eye abnormality 
>Long head
>late delay
>Not treated
    >Intellectual disability
     >Behavioural problems
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16
Q

What phase are chromatids in for the karotype and for staing

A

Metaphase

17
Q

What disease does this person have?

47 Xx + 21

A

Downs syndrome

18
Q

What chromosome abnormality does this person have?

46 Xy, del (5) (p25)

A

Deletion on chr 5

near tips

19
Q

What is a chiasma

A

Visible result of crossing over

20
Q

What afftect do change in gene dosage have?

A

> Balance of genes acting in a pathway

21
Q

Give a polyploidy example

A

Triploidy

22
Q

Give example of structural gene dosage abnormalities

A 
Deletion
Inversion
Duplication
Translocation (robertsonian, reciprocal)
De novo
23
Q

When do de novo mutations occur? what does this mean>

A

Meiosis

Inherited

24
Q

When does non disjunction occur?

A

Meiosis 1

25
Q

What risk increases with age

A

De novo

26
Q

What is is called in non dis junction when two chromosomes go into the same gamete?

A

Disomic

27
Q

Symptoms of Patau

A 
Multiple malformations
Mid line:
>Incomplete lobation of brain
>Cleft lip
>Congenital heart defects`
28
Q

Symptoms of Edward Syndrome

A

Multiple Malformations
>Kidney & Heart

> Clenched fist
Overlapping fingers

29
Q

Symptoms of Turner syndrome (Sex chr)

A

> Primary amenorrhoea
Wide carrying angle or arms
Congenital heart disease
Short

30
Q

Symptoms of klinefelter (sex chr)

A 
>Weak muscle
>Poor coordination
>Tall
>Dec. sex drive
>Gynaecomastia 
>Less hair
>small testicles
>osteoporosis
31
Q

What occurs in reciprocal translocation?

A

> Exchange of similar structured genetic fragments between 2 non homologous chromosomes

32
Q

What are the 3 probes in FISH?

A

> Repetitive sequencing
DNA segment
>specific
>chromosome painting

33
Q

What templates are used in PCR?

A

Genomic
Cloned
cDNA

34
Q

What does FISH identify

A

> Structural and numerical abnormalities

35
Q

What does OLA 1 recognise?

A

> An A that recognises T

36
Q

What does OLA 2 recognise?

A

> A c that recognises a G

IMS -izzy (11 decks)

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