Week 3: Genetic tests and principles of inheritance Flashcards

1
Q

What type of genomic test looks at the entire chromosome

A

Fluorescent in situ hybridisation (FISH)

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2
Q

What type of genomic test looks at a small bit of chromosome

A

Array comparative genome hybridisation (aCGH)

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3
Q

What type of genomic test looks at entire sets of chromosomes

A

Karyotyping

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4
Q

In an autosomal dominant disorder, what is the chance of a child of an affected parent inheriting the disorder

A

50%

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5
Q

In an autosomal recessive disorder, what is the chance of a child of 2 carrier parents inheriting the disorder

A

25%

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6
Q

In an autosomal recessive disorder, what is the chance of a phenotypically normal child with an affected siblings being a carrier

A

2/3 chance

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7
Q

In an X-linked disorder, what is the chance of a carrier female having an affected son

A

1/4 chance of son with dz

2/4 chance of carrier son

1/4 chance of normal son

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8
Q

In an X-linked disorder, what is the chance of a carrier female having an affected daughter

A

1/4 chance of being carrier

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9
Q

In an X-linked disorder, what is the chance of a son of an affected male being affected

A

Never

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10
Q

In an X-linked disorder, what is the chance of a daughter of an affected male being affected

A

100%

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