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Thomas Monk
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Decks in this class (19)
2. X -linked dominant and lethal
Describe the features of x linked...,
Give 3 examples of an x linked do...,
What causes alport syndrome what ...
7
cards
3. X-linked recessive
Describe the inheritance observed...,
For what reasons can females be a...,
Give clinical background of dmd a...
13
cards
4. AR disorders - i.e. SMA
How is sma characterised at the c...,
How is sma characterised clinically,
What gene is involved in sma and ...
7
cards
5. 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
8. Cystic Fibrosis and CFTR related disorders
What are c modulators,
What are the three classes of cf ...,
What is the name of the common cf...
20
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
10
cards
11. PWS and AS
Clinical characteristics of pws a...,
What causes pws what causes as,
Which genes are involved in pws a...
18
cards
12. BWS/RSS
What is the result of dna methyla...,
Which residues can be methylated ...,
What is the definition of imprinting
39
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...
16
cards
16. Other repeats - polyalanine & FSHD
What encodes polyalanine repeats ...,
What is the result of polyalanine...,
How do polyalanine tracts compare...
16
cards
17. Mitochondrial inheritance
What is the role of the mitochondria,
Describe the mitochondrial genome,
Why is a high mutation rate seen ...
25
cards
18. Chromosome breakage syndromes
What are chromosome breakage diso...,
What are chromosome breakage synd...,
What is the clinical consequence ...
18
cards
19. Abnormal phenotypes in balanced karyotypes
Question 1,
What is a cryptic imbalance,
When to the majority of de novo r...
14
cards
20. Microdeletions/microduplication syndromes
What is the cause of potocki lups...,
How si potocki lupski syndrome in...,
What is the clinical presentation...
29
cards
21. Use of microarray for detection of idiopathic learning difficulties
What types of referral are receiv...,
What are lcrs,
How does a snp array work
22
cards
Chromosome abnormalities, segregation
What is a robertsonian translocation,
Which chromosomes are acrocentric,
Name the three common reciprocal ...
27
cards
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3: Modes of inheritance and constitutional genetics
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