Genetics Flashcards

1
Q

How does arrayCGH work?

A

detects genetic imbalance between control DNA and the patients, each dot corresponds to a specific genetic region- if there is more or less control DNA on any of the dots that indicates that there is less or more patient DNA than normal

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2
Q

How do you know if a genetic change causes disease?

A

it is in a gene that matches the phenotype; it has an effect on gene function; it is not listed as a polymorphism; it not an evolutionarily conserved bit of gene; it is de-novo in child or is present in other affected family members

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3
Q

What do you need to be wary of in deciding a mutation is causative if it is only found in affected not unaffected people?

A

penetrance

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4
Q

What are the three domains that intellectual disability impacts?

A

conceptual (language, reading writing, reasoning); social; practical (ADL)

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5
Q

What should be asked in the past medical history of a child?

A

pregnancy/birth history; feeding/weaning; medical problems; hospitalizations/illnesses

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6
Q

What are the first line investigations to consider?

A

CK; TFTs; U&Es; bone grouop; LFTs; FBC and film; aCGH; fragile X

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7
Q

What does aCGH stand for?

A

array comparative genomic hybridisation

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