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Alexandra Colvin
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Decks in this class (23)
human genome organization
Gene rich regions 1,
Gene poor regions 2,
Stable regions 3
71
cards
genetic imprinting
Epigenetic 1,
Examples of epigenetics 2,
Genetic imprinting is 3
24
cards
Pedigree/numerical chrom
The pedigree or family history is...,
Proband 2,
Consultand 3
64
cards
structural abnormalities
Chromosomal rearrangements require 1,
Structural rearrangements can be 2,
Two types of structural rearrange...
39
cards
epigenetics
Effects of paternal grandparent d...,
Genetically comparable mothers wh...,
Epigenetic changes lead to 3
24
cards
clinical vignettes
Cause of down syndrome 1,
Trisomy 21 is unbalanced transloc...,
Trisomy 21 95 of patients with 3
48
cards
clinical cytogenetics
Clinical cytogenetics 1,
Chromosome fish analyses can reve...,
Chromosome fish studies important...
31
cards
Population genetics
Population genetics 1,
Basic pop gen principles 2,
Mutation 3
66
cards
Pharmacogenics
Pharmacogenetics 1,
Pharamacogenomics 2,
Pharamcogenetics is the study or 3
57
cards
multifactorial inheritance
Simple medelian trait 1,
Variable disease progression depe...,
Complex traits explain 3
40
cards
Hemoglobinopathies
The major form of adult hemoglobin 1,
Each globin contains one ________...,
All of and like genes are in the ...
39
cards
mutational mechanism and disease
Single gene disorders 1,
The majority of mutations current...,
Of the four major mechanisms this...
76
cards
sex chromosome
Y chromosome ___ genes x chromoso...,
The x chromosome 2,
X chromosome inactivation occurs ...
28
cards
Autosomal recessive disorders
Characteristics of autosomal rece...,
Allelic heterogeneity 2,
Compound heterozygote 3
29
cards
thalassemia vignette
Hemoglobin genes 1,
Globin synthesis during developme...,
Glob in synthesis after birth 3
19
cards
Autosomal dominant
Rare when a _______ dominant muta...,
Example of complete penetrance 2,
Achondroplasia is autosomal _____ 3
37
cards
X-linked mitochondrial disease
X linked disorders 1,
X linked recessive inheritance 2,
X linked dominant inheritance 3
21
cards
Genetic testing
Examples of less restrictive defi...,
Biochemical tests could test for 2,
Enzyme activity assays test for 3
46
cards
treatment of genetic disease
0
cards
case studies in genetics
0
cards
finding disease genes
0
cards
Shit I don't know
Epigenetic changes are good for t...,
Dmd chromosome 2,
Dmd in the the 3
57
cards
Snapp question
When should patient s with turner...,
Neonatal diagnosis of turner s sy...,
A baby is born with prominent aur...
111
cards
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M2M exam 2
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