Diseases Flashcards by Nora K | Brainscape

Q

List trinucleotide repeat expansion diseases

A

Huntingtons chorea
Fragile X syndrome
myotonic dystrophy
Friedrich ataxia

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Q

What is trisomy 21?

A

Down syndrome

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Q

What is trisomy 18?

A

Edwards syndrome

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Q

What is trisomy 13?

A

Patau syndrome

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Q

What is genetic mutation with down syndrome?

A

Trisomy 21

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Q

Mutation with Edward syndrome?

A

trisomy 18

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Q

What is mutation with Patau syndrome?

A

trisomy 13

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Q

Disorders with X chromosome?

A

Fragile X syndrome
X-linked agammaglobulinemia
Klinefelter syndrome (XXY)

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Q

What is the gene defect in achondroplasia? Symptoms?

A

FGFR-3 gene

short stature
large head prominent forehead
short fingers

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Q

What is the gene defect in albinism? Symptoms?

A

Gene –> tyrosine kinase gene
hypo pigmented skin
photophobia

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