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Biology 101 flashcards

Clinical Cytogenetics and Molecular Genetics

This class was created by Brainscape user Josh Klonoski. Visit their profile to learn more about the creator.

By: Josh Klonoski
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Decks in this class (20)

Introduction
_______ is the study of chromosom...,
_______ aka ______ ______ mutatio...,
________ mutations are acquired a...
65  cards
Chromosome Numerical Abnormalities
Term for number of homologous chr...,
Define human haploidy diploidy an...,
Define aneuploidy and euploidy
103  cards
Chromosome Structural Abnormalities
Pallister killian syndrome is cau...,
_______ translocations occur in u...,
__________translocations occur in...
34  cards
Microdeletions, Microduplications and Contiguous Gene Disorders
________ ________ __________ is a...,
_________ 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,
Define genetic heterogeneity,
Define allelic heterogeneity
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 genes with maternal...,
Tandem repeat gene disorder with ...
54  cards
Patterns of Inheritance
_____________ means identical all...,
___________ means two different a...,
________ ______________ two diffe...
59  cards
NGS/MPS/WES/WGS
1  cards
Genomic Analysis/GWAS
0  cards
Genetic Risk Analysis
0  cards
Polygenic Risk Scores
0  cards
Pharmacogenomics
0  cards
Nomenclature
Tjio and levan in 1956,
Technology introduced in 1981 for...,
Nomenclature for this testing in ...
54  cards
Pedigree Analysis
0  cards

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Clinical Cytogenetics and Molecular Genetics

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