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jane soden
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Decks in this class (20)
incomplete penetrance
Give an example of incomplete pen...
1
cards
Interpreting VUS
What are the 5 classes of vus,
What criteria should be used to i...
2
cards
Transitional Challenges Wes/wgs
What are the transitional challen...
1
cards
Ngs Applications
What are the benefits of a geneti...,
What are the challenges of ngs in...,
Give an example of a ngs platform
7
cards
Sex Chromosomes
What different variants of turner...,
Phenotype if turner syndrome,
Phenotype of 47 xxx
26
cards
Haem Onc
What prognostic scoring system is...,
Ipss r good cytogenetic risk group,
Ipss r very good cytogenetic risk
150
cards
Inheritance Patterns
Variable expressively example,
X linked recessive example,
X linked dominant example
38
cards
Chromosomes
What are fragile sites,
Which fragile sites are pathogenic,
How are fragile sites classified
47
cards
Molecular Genetics Syndromes
What is most common cause of infa...,
What is the clinical phenotype of...,
What are the different types of sma
36
cards
Prenatal
Major fetal abns related to chr a...,
Improvement the detection rate of...,
Study comparing 5 array platforms
55
cards
Cancer
Types of familial crc,
What does msi h indicate in crc,
How is ihc used for crc diagnosis
26
cards
Studies
What is the aim of the dd project,
What ifs are currently reported b...,
What is policy on feeding back ca...
3
cards
Techniques
How interpret vous from acgh,
Advantages of using arrays over t...,
How many new syndromes detected b...
5
cards
Breakage Syndromes
Number of complementary on groups...,
Fa that is mosaic,
Incidence of bloom syndrome
27
cards
Mitichondia
What processes occur in mitochondria,
How many genes on mitichondria an...,
Features of mtdna
11
cards
Definitions
Define metabolism,
Imprinting,
Validation
17
cards
Errors In Metabolism
Incidence of iem,
Why is genetics important in diag...,
What is glycogen storage disorder
7
cards
Lysosome Storage Disorders
General phenotype of lsd,
Example of lipid storage disorder,
Risk of heterozygous gauchers mut...
11
cards
Inherited blood disorders
What is defective in alpha thalas...,
What are the 4 possible alpha tha...,
Which gene encodes beta globin su...
18
cards
microdeletion syndromes
3 clinical features associated wi...,
3 clinical features of angelmans ...,
Gene location of pws as
63
cards
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genetics
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