This is a draft cheat sheet. It is a work in progress and is not finished yet.
Mendelian Disorder
1.Autosomal Dominant |
2.Autosomal Resessive |
3. X-linked Recessive |
- Both sex involved |
- Both sex involved |
- Males only |
- Generations not skipped |
- Generations skipped |
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Single Gene Disorder
Enzyme Defects |
Structure protein defects |
1. Accumulation of substrate |
1. Marfan Syndrome |
2. Lack of product |
2. Ethler-Danlos Syndromes |
3. Failure to inactivate a protein which cause damage |
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Receptor protein defect |
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- Familial hypercholesterolemia (AD) |
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Mendelian Disorder
Autosomal Dominant |
Autosomal Recessive |
X-link recessive |
- Both sex involved |
- Both sex involved |
- Males only |
- Generatnios not skipped |
- Generation skipped |
- Generation skipping doesn't matter |
Chromosomal Disorder
- Chromosome, genome mutation |
Down Syndrome |
- Meiotic nondisjunction of chromosome 21 |
Klinefelter Syndrome |
- >=2 Xchromosome/ 1>= Y chromosome |
- 47,XXY |
- Testicular abnormality |
Turner syndrome |
- Comple/ partial monosomy of X chromosome in females |
- Neck webbing, heart defects |
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