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Josh Klonoski
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Decks in this class (21)
Introduction
_______ is the study of chromosom...,
______ aka ____ _____ mutations a...,
________ mutations are acquired a...
65
cards
Chromosome Numerical Abnormalities
Term for number of homologous chr...,
Define human haploidy diploidy an...,
Define aneuploidy and euploidy 3
103
cards
Chromosome Structural Abnormalities
Pallister killian syndrome is cau...,
_______ rearrangements breakpoint...,
__________rearrangements breakpoi...
34
cards
Microdeletions, Microduplications and Contiguous Gene Disorders
_______ ______ _________ is a sma...,
_________ is 0 or 1 copy of the r...,
__________ is 3 or more copies of...
62
cards
Translocations
Translocations can allow for up t...,
Translocations can allow for up t...,
In translocations it is always re...
50
cards
Prenatal Cytogenetics
Incidence of aneuploidy in sperm ...,
4 common aneuploidies 35 of spont...,
3 common aneuploidies 4 of stillb...
52
cards
Human Disease Genes
Define pleiotropy 1,
Define genetic heterogeneity 2,
Define allelic heterogeneity 3
211
cards
Autosomal Dominant and Multigenic Disorders
0
cards
Mitochondrial Disorders
The mitochondrial genome is _____...,
The mitochondrial genome is 16 57...,
The mitochondrial genome contains...
65
cards
Imprinting and Uniparental Disomy
_____________ is the mechanism fo...,
Epigenetics includes ___________ ...,
______________ _________________ ...
51
cards
Sex Chromosomes
What is the rough incidence of x ...,
What is the incidence of all chro...,
What is the incidence of aneuploi...
56
cards
Trinucleotide Repeats
__________ is when the gene is pa...,
Tandem repeat gene disorders with...,
Tandem repeat gene disorder with ...
54
cards
Patterns of Inheritance
_____________ means identical all...,
___________ means two different a...,
_______ _____________ two differe...
59
cards
NGS/MPS/WES/WGS
Genetic testing can be hypothesis...,
If fragile x testing is performed...,
________ sequencing is a first ti...
15
cards
Genomic Analysis/GWAS
___ of the genome is genic exons ...,
___ of the genome encodes for pro...,
___ of an individuals genome cons...
46
cards
Genetic Risk Analysis
________ statements are additive ...,
In hardy weinberg law _________ f...,
What is the hardy weinberg law eq...
13
cards
Polygenic Risk Scores
___________ _________ underlying ...,
Variants that are ______________ ...,
______ _____________ aggregate ef...
17
cards
Pharmacogenomics
1842 first human drug metabolism ...,
______________ study of the relat...,
_______________ study of the rela...
29
cards
Nomenclature
Tjio and levan in 1956 1,
Technology introduced in 1981 for...,
Nomenclature for this testing in ...
54
cards
Cytogenomics
For most hematologic malignancies...,
Nccn guidelines for hematologic m...,
Name 6 things cytogenetics is mis...
22
cards
Ethics
Ethics provides a _____________ f...,
An incidental finding minimizes t...,
_________________ emphasis that p...
21
cards
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Clinical Cytogenetics and Molecular Genetics
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