genetic issues Flashcards

(7 cards)

1
Q

what is cystic fibrosis

A

inherited condition which causes sticky mucous to build up in lungs and digestive system, it can cause lung infections and problems with digestion. it can be tested for at birth and this early detection is key in managing it. there is no cure but it can be managed

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2
Q

what is down syndrome

A

a genetic condition where there is an extra chromosome at 21 trisomy, it affects appearance, learning difficulties and can shorten life expectancy. it can be screened for at 10 - 14 weeks of pregnancy

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3
Q

what is turners syndrome

A

genetic condition that causes cardiac and kidney problems, affects appearance and learning disabilities. caused by a loss of 1 chromosome

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4
Q

what is Klinefelter’s syndrome

A

in males with an extra x chromosome, affects appearance, learning disabilities, speech and language delays and behavioural factors

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5
Q

what is jacobs syndrome

A

in males with an extra y chromosome, many are asymptomatic. acne, aggression, tall height, increased muscle mass and reduced muscle coordination are caused by it

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6
Q

what are some disorders caused by faulty DNA replication

A

Sickle cell anaemia
Cystic fibrosis
Fainting goats
Narcolepsy
Rhodesian ridebacks

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7
Q

what are the 2 types of genetic errors

A

Silent mutations
Point deletions and insertions

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