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3:  modes of inheritance and constitutional genetics

This class was created by Brainscape user Thomas Monk. Visit their profile to learn more about the creator.

By: Thomas Monk
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Decks in this class (14)

2. X -linked dominant and lethal 
Describe the features of x linked...,
Give 3 examples of an x linked do...,
Give clinical background of first...
7  cards
3. X-linked recessive 
Describe the inheritance observed...,
For what reasons can females be a...,
Give clinical background of dmd a...
7  cards
4. AD - haploinsufficiency 
What is meant by the term haploin...,
What three types of genes display...,
Give three examples of single gen...
5  cards
6. AD - gain of function 
What is the result of gain of fun...,
Give 2 examples of strs that show...,
Describe the mechanism of disease...
5  cards
7. AD - dominant negative effect 
What is meant by the term dominan...,
Give an example of a disease gene...,
Describe how ad variants in gjb2 ...
6  cards
9. Fragile X and FMR1 related disorders 
What does fmr1 encode what is its...,
What causes fmr1 related disorders,
Describe the fragile x phenotype
7  cards
11. PWS and AS
Clinical characteristics of pws a...,
What causes pws what causes as,
Which genes are involved in pws a...
5  cards
12. BWS/RSS
What is the result of dna methyla...,
Which residues can be methylated ...,
What is the definition of imprinting
30  cards
14. Triplet repeat disorders - loss of function
Which str disorders are due to lo...,
When do strs expand and why,
What is meant by the term anticip...
9  cards
15. Triplet repeat disorders - gain of function
What is the clinical phenotype of hd,
What causes hd,
When does expansion usually occur...
15  cards
16. Other repeats - polyalanine - FSHD 
What encodes polyalanine repeats ...,
What is the result of polyalanine...,
How do polyalanine tracts compare...
15  cards
17. Mitochondrial inheritance 
What is the role of the mitochondria,
Describe the mitochondrial genome,
Why is a high mutation rate seen ...
10  cards
18. Chromosome breakage syndromes 
What are chromosome breakage synd...,
Clinical characteristics of fanco...,
What causes fanconia anaemia
10  cards
19. Abnormal phenotypes in balanced karyotypes 
Question 1,
What is a cryptic imbalance,
When to the majority of de novo r...
13  cards

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3:  modes of inheritance and constitutional genetics

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