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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 and...,
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 clinic...,
Give an example of a ngs platform 3
7
cards
Sex Chromosomes
What different variants of turner...,
Phenotype of turner syndrome 2,
Phenotype of 47 xxx 3
26
cards
Haem Onc
What prognostic scoring system is...,
Ipss r good cytogenetic risk group 2,
Ipss r very good cytogenetic risk 3
150
cards
Inheritance Patterns
Variable expressively example 1,
X linked recessive example 2,
X linked dominant example 3
38
cards
Chromosomes
What are fragile sites 1,
Which fragile sites are pathogenic 2,
How are fragile sites classified 3
47
cards
Molecular Genetics Syndromes
What is most common cause of infa...,
What is the clinical phenotype of...,
What are the different types of s...
36
cards
Prenatal
Major fetal abns related to chr a...,
Improvement the detection rate of...,
Study comparing 5 array platforms 3
55
cards
Cancer
Types of familial crc 15 of crc 1,
What does msi h indicate in crc 2,
How is ihc used for crc diagnosis 3
26
cards
Studies
What is the aim of the ddd project 1,
What ifs are currently reported b...,
What is policy on feeding back ca...
3
cards
Techniques
How interpret vous from acgh 1,
Advantages of using arrays over t...,
How many new syndromes detected b...
5
cards
Breakage Syndromes
Number of complementation groups ...,
Fa that is mosaic 2,
Incidence of bloom syndrome 3
27
cards
Mitichondia
What processes occur in mitochond...,
How many genes on mitichondria an...,
Features of mtdna 3
11
cards
Definitions
Define metabolism 1,
Imprinting 2,
Validation 3
17
cards
Errors In Metabolism
Incidence of iem 1,
Why is genetics important in diag...,
What is glycogen storage disorder 3
7
cards
Lysosome Storage Disorders
General phenotype of lsd 1,
Example of lipid storage disorder 2,
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 3
63
cards
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genetics
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