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Alexandra Colvin
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Decks in this class (23)
human genome organization
Gene rich regions,
Gene poor regions,
Stable regions
71
cards
genetic imprinting
Epigenetic,
Examples of epigenetics,
Genetic imprinting is
24
cards
Pedigree/numerical chrom
The pedigree or family history is...,
Proband,
Consultand
64
cards
structural abnormalities
Chromosomal rearrangements require,
Structural rearrangements can be,
Two types of structural rearrange...
39
cards
epigenetics
Effects of paternal grandparent d...,
Genetically comparable mothers wh...,
Epigenetic changes lead to
24
cards
clinical vignettes
Cause of down syndrome,
Trisomy 21 is unbalanced transloc...,
Trisomy 21 95 of patients with
48
cards
clinical cytogenetics
Clinical cytogenetics,
Chromosome fish analyses can reve...,
Chromosome fish studies important...
31
cards
Population genetics
Population genetics,
Basic pop gen principles,
Mutation
66
cards
Pharmacogenics
Pharmacogenetics,
Pharamacogenomics,
Pharamcogenetics is the study or
57
cards
multifactorial inheritance
Simple medelian trait,
Variable disease progression depe...,
Complex traits explain
40
cards
Hemoglobinopathies
The major form of adult hemoglobin,
Each globin contains one ________...,
All of and like genes are in the ...
39
cards
mutational mechanism and disease
Single gene disorders,
The majority of mutations current...,
Of the four major mechanisms this...
76
cards
sex chromosome
Y chromosome ____ genes x chromos...,
The x chromosome,
X chromosome inactivation occurs ...
28
cards
Autosomal recessive disorders
Characteristics of autosomal rece...,
Allelic heterogeneity,
Compound heterozygote
29
cards
thalassemia vignette
Hemoglobin genes,
Globin synthesis during developme...,
Glob in synthesis after birth
19
cards
Autosomal dominant
Rare when a _______ dominant muta...,
Example of complete penetrance,
Achondroplasia is autosomal _____
37
cards
X-linked mitochondrial disease
X linked disorders,
X linked recessive inheritance,
X linked dominant inheritance
21
cards
Genetic testing
Examples of less restrictive defi...,
Biochemical tests could test for,
Enzyme activity assays test for
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,
Dmd in the the
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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