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Decks in this class (40)
TBL 1
What is the nomenclature of this ...,
In patients with nf1 different ty...,
From which cell cycle phase are c...
11
cards
Introduction including methods (NGS) and nomenclature of genetic variants
What is medical genetics 1,
What is a chromosomal disorder 2,
What is a single gene disorder 3
23
cards
Basic concepts of formal genetics
What are monogenic traits also kn...,
What principle states that sexual...,
What does the principle of indepe...
22
cards
Autosomal dominant inheritance
What is the frequency of autosoma...,
What is the typical parental comb...,
In a punnett square what is the p...
13
cards
Autosomal recessive inheritance
What is the typical recurrence ri...,
In autosomal recessive inheritanc...,
How does consanguinity relate to ...
18
cards
Factors that affect expression of disease-causing genes
What is a de novo mutation 1,
What is the recurrence risk for s...,
What is germline mosaicism 3
35
cards
Consanguinity in human populations
What is consanguinity 1,
In which regions are first cousin...,
What is the coefficient of relati...
33
cards
X-inactivation
What is x inactivation 1,
Who proposed the lyon hypothesis 2,
What does dosage compensation ref...
19
cards
Sex-linked inheritance
What are sex linked genes 1,
What categories are x linked dise...,
What is a key characteristic of x...
80
cards
Mitochondrial inheritance
What is a sex limited trait 1,
What is a sex influenced trait 2,
Is male pattern baldness strictly...
18
cards
Genomic imprinting
What is genomic imprinting 1,
What is the principle established...,
How many human genes are known to...
51
cards
Cytogenetic technology and nomenclature
What is the purpose of using spin...,
What is a karyotype 2,
How are chromosomes classified ba...
31
cards
Abnormalities of chromosome number
What is polyploidy 1,
What are euploid cells 2,
What are the karyotypes for tripl...
59
cards
Chromosome abnormalities and pregnancy loss
What percentage of pregnancies ar...,
What is the leading known cause o...,
What is the estimated percentage ...
13
cards
Abnormalities of chromosome structure
What are the two types of structu...,
What causes chromosome breakage d...,
What is a translocation 3
61
cards
Chromosome abnormalities and clinical phenotypes
What do most autosomal aberration...,
What are some well known chromoso...,
What is a common characteristic o...
15
cards
Cancer cytogenetics & Chromosome instability syndromes
What is the main cause of most ch...,
What are chromosome rearrangement...,
What was the first recognized chr...
23
cards
Mutation: The source of genetic variation
What is a mutation 1,
What are the two major types of m...,
What is a base pair substitution 3
70
cards
Detection and measurement of genetic variation
What is genetic variation 1,
What are blood groups based on 2,
Name two blood group systems with...
76
cards
Genetic variation in populations
What is the ultimate source of ge...,
Why is sickle cell disease more p...,
What role does probability play i...
37
cards
Variants of metabolism
What is the estimated incidence o...,
What percentage of morbidity and ...,
What are some common diseases tha...
24
cards
Defects of metabolic processes
What role do enzymes play in bioc...,
What are the four primary groups ...,
What major metabolic pathways are...
118
cards
Development
What is animal development 1,
What is the body plan in animal d...,
What is the role of genes in anim...
22
cards
Genetic mediators of development: The molecular toolbox
What types of products do genes r...,
What is the sonic hedgehog shh pa...,
What disorders are associated wit...
37
cards
Pattern formation
What is the process of ordered sp...,
What are the general steps involv...,
What must cells in the developing...
82
cards
Gene mapping
What does the principle of indepe...,
What are linked loci 2,
What is a haplotype 3
76
cards
Physical mapping and cloning
What does linkage analysis determ...,
What is the goal of physical mapp...,
What is a cytogenetic abnormality 3
41
cards
Gene mapping by association: genome-wide association studies
What do genome wide association s...,
What is the purpose of comparing ...,
What is the average distance betw...
12
cards
Exome and whole-genome sequencing
What is the primary purpose of ex...,
What technology has dramatically ...,
What percentage of the human geno...
48
cards
Causes of cancer
What percentage of deaths is now ...,
What does the term neoplasm refer...,
What is tumorigenesis 3
21
cards
Cancer genes
What occurs when a clone of cells...,
How many cancer causing genes hav...,
What mediates one component of ce...
23
cards
Major classes of cancer genes
What are the three major categori...,
What is the function of tumor sup...,
What is the first identified tumo...
45
cards
Identification of inherited cancer-causing genes
What are oncogenes 1,
What is the primary challenge in ...,
What is linkage analysis 3
56
cards
Inherited breast cancer
What is the lifetime prevalence o...,
How much does a first degree rela...,
Which two genes are major contrib...
60
cards
Principles of multifactorial inheritance
What are traits in which variatio...,
What term is used when environmen...,
What shape does the distribution ...
37
cards
The genetics of common diseases
What percentage of newborns prese...,
What are some common congenital m...,
What is the general sibling recur...
137
cards
Population Screening for Genetic Disease
What is the primary purpose of sc...,
Name two well known examples of p...,
What is the definition of populat...
40
cards
Molecular Tools for Screening and Diagnosis
What was the traditional method f...,
What recent advancements have cha...,
What is linkage analysis 3
37
cards
Prenatal diagnosis of genetic disorders and congenital defects
What is the principal aim of pren...,
What are some potential benefits ...,
True or false the majority of pre...
57
cards
Gene therapy
What is gene therapy 1,
What is somatic cell gene therapy 2,
What are good candidates for soma...
50
cards
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Medical Genetics
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