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Elizabeth Watson
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Decks in this class (28)
18.03.04 AR SMA
Briefly describe sma including in...,
2
cards
18.07.43 Chromosome 20
What are some of the phenotypic f...,
What are some of the features of ...,
What is the phenotype and typical...
15
cards
18.03.44 Chromosome 21
What is the incidence of down syn...,
What are the possible genetic ori...,
What is the most common nondisjun...
14
cards
18.03.37 Chromosome 14
Give three clinical features of m...,
When mosaic t14 is identified at ...,
How does upd14 occur
17
cards
18.03.02 X-linked dominant and lethal
What are some pedigree indicators...,
What are some pedigree indicators...,
Give two examples of disease whic...
17
cards
Myotonic dystrophy
What is the incidence of myotonic...,
What is the mean age of onset of dm,
What is the leading cause of deat...
28
cards
18.03.03 X-linked recessive inheritance
What are the features of x linked...,
In what circumstances may females...,
Give three examples of x linked r...
19
cards
18.03.10 Imprinted chromosomes and summary of syndrome
Give a definition of imprinting,
Give a brief overview of imprinti...,
Which mechanisms can lead to impr...
28
cards
18.03.42 Chromosome 19
What are some features of chromos...,
Give three examples of mendelian ...,
Give three examples of cancer rel...
14
cards
18.03.14 Triplet repeat LOF FRDA
What is the effect of a loss of f...,
Give two examples of loss of func...,
Give a brief overview of frda inc...
35
cards
18.03.16 Polyalanine repeat disorders
Which codons encode alanine,
Where are polyalanine tracts comm...,
Give some features of polyalanine...
17
cards
18.03.16 FSHD
Give an overview of fshd includin...
1
cards
18.03.05 AD - Haploinsufficiency
Define haploinsufficiency,
How many haploinsufficient genes ...,
What genotype phenotype correlati...
22
cards
18.03.06 AD - Gain of function
What are the different types of g...,
Why do gain of function mutations...,
Give an example of a hypermorph
20
cards
18.03.07 AD - Dominant negative effect
What is the effect of a dominant ...,
Which mechanism likely evolved to...,
Which types of protein are more s...
29
cards
18.03.01 Genetic Definitions
Define anticipation,
Give some examples of disorders w...,
What type of tnr does not show an...
23
cards
18.03.08 Cystic Fibrosis
Give a brief overview of cf inclu...,
What is the genomic position and ...,
What is the function of the cftr ...
42
cards
18.03.09 Fragile X
Where is fmr1 and what disorders ...,
What is the underlying disease me...,
What is the function of fmrp
29
cards
18.03.11 Prader-Willi/Angelman syndrome
What is the incidence of pws,
What is the phenotype of pws in e...,
Give five phenotypic features of ...
29
cards
18.03.13 One gene, many diseases
Give three examples of genes in w...,
Give two examples of locus geneti...,
What is the role of ret 10q112
40
cards
18.03.15 Triplet repeat disorders - GoF
How are repeat expansions predict...,
What is suggested to cause the va...,
How is genetic anticipation defined
29
cards
18.03.21 Use of microarray for LD
Give a brief introduction to deve...,
Why is it important to provide a ...,
What is the estimated increase in...
16
cards
18.03.17 Mitochondrial inheritance
What are some of the functional p...,
What are the properties of mtdna ...,
How many copies of the mt genome ...
32
cards
Triplet repeat disorders - allele ranges
Give the allele classes for hd,
What is the tr locus in hd
2
cards
18.03.15 RNA mediated GoF in DM1 and 2
What is the locus and mutation as...,
Give some of the clinical feature...,
What is the function of dmpk
13
cards
18.03.18 Chromosome breakage disorders
Give three examples of chromosome...,
What is the incidence of fanconi ...,
Is there a difference of incidenc...
42
cards
18.03.12 BWS/SRS
What is imprinting,
Which imprinting locus is associa...,
Briefly describe the 11p15 imprin...
30
cards
18.03.20 Microdup/del syndromes
What are the different pathologic...,
What are the two forms of syndrom...,
What is the common basis for many...
30
cards
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Modes of inheritance
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