Introduction to Medical Inheritance: Patterns in Families - BM5 RCR1

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In most cases, an individual born with an autosomal recessive disease has parents who are both asymptomatic obligate carriers. If this is the case, what is the risk of a subsequent child having the same condition?
25%
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What is an autosomal gene?
A gene with two copies, one on each chromosome
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If a mutation is 100% penetrant, what does this mean?
If you possess the mutation, you will demonstrate the resulting phenotype (e.g. disease)
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An father unaffected by Myotonic Dystrophy and a mother with Myotonic Dystrophy type II (mild symptoms) have a child. Presuming that the mother is heterozygous, what is the chance of the child inheriting the disease?
50%
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If a child is affected by a genetic disease, but both the parents are not, what is the most likely mode of inheritance?
Autosomal Recessive
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Approximately how many recessive genetic diseases does the average person carry an allele for?
20-30
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What is a 'de novo' mutation?
An alteration in a gene that is present for the first time in the offspring as a result of a mutation
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True or false: male to male transmission never occurs in X-linked recessive conditions?
True
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True or false: Y-linked conditions will affect all sons from an affected father?
True
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True or false: X-linked dominant characteristics are most common in women?
True
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Two parents are heterozygous carriers of an autosomal recessive disease. What is the probability that their first child will have that condition?
25%
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Other cards in this set

Card 2

Front

What is an autosomal gene?

Back

A gene with two copies, one on each chromosome

Card 3

Front

If a mutation is 100% penetrant, what does this mean?

Back

Preview of the front of card 3

Card 4

Front

An father unaffected by Myotonic Dystrophy and a mother with Myotonic Dystrophy type II (mild symptoms) have a child. Presuming that the mother is heterozygous, what is the chance of the child inheriting the disease?

Back

Preview of the front of card 4

Card 5

Front

If a child is affected by a genetic disease, but both the parents are not, what is the most likely mode of inheritance?

Back

Preview of the front of card 5
View more cards

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