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13 Cards in this Set
- Front
- Back
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Pedigree charts |
AD chart/examples Partial/incomplete penetrance Variable expression AR chart/examples X-linked recessive chart/examples X-linked dominant chart/examples Mitochondrial inheritance chart |
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Trisomy and prenatal diagnosis |
Screening tests CVS Quadruple testing Amniocentesis 20w scan Trisomy 16 Future |
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Cytogenetics |
Karotyping FISH aCGH SNP array |
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Molecular genetics |
DNA sequencing Southern blotting PCRs MLPA Heteroduplex analysis |
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Balanced chromosome rearrangements |
Alternate Adjacent-1 Adjacent-2 3:1 segregation Robertsonian translocation Inversions |
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AD inheritance |
Renal cysts and diabetes Tuberous sclerosis Allelic heterogeneity |
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Dystrophies |
Types Dystrophin gene Diagnosis Genetic testing Management |
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Mitochondria |
Heteroplasmy Flow chart for mito diagnosis Biomarkers Treatment options Reproductive options |
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Cancer genetics |
Breast cancer FAP HNPCC |
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Gene therapy |
Targets for gene therapy CRISPR-Cas9 DMD to BMD |
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Genomic disorders |
Imprinting Prader Willi Angelman |
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Epigenetics |
CpG islands Chromatin Acetylation Chromatin remodellers |
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Triplet repeat diseases |
How it happens Anticipation TNR in coding/non coding areas Fragile X Myotonic dystrophy |
