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19 Cards in this Set
- Front
- Back
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Karyotyping (Process)
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- Sample of PBLs
- Mixed with a mitogenic agent and anti-coagulating agent. - Cells fixed in Metaphase - Chromosomes are placed on a slide - Geimsa staining (G-C bands are light, A-T bands are dark) - Allows visualisation of the chromosomes. |
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FISH
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Flourescent technique.
Allows fluorescent visualisation of the chromosomes to assess numerical and structural abnormalities. |
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Down's Syndrome (Clinical Signs)
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- Single Palmar Crease (50%)
- Large, protruding tongue - Raised palpebral fissures - Epicanthal Folds - Small, low set ears and flat nasal bridge. |
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Edward's Syndrome (Clinical Signs)
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Trisonomy 18
- Rocker-bottom feet - Prominent occiput, receeded jaw - 2nd and 5th digits overlap - Clenched fists - Rarely more than 1 year survival |
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Platau's Syndrome (Clinical Signs)
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Trisonomy 13
- Cleft palate - Polydactyly - Rocker-bottom feet - Abnormal frontal cortex |
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Incidence of Edward's Syndrome?
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1 in 8,000
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Incidence of Platau's Syndrome?
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1 in 15,000
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Turner's Syndrome (Clinical Signs)
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XO
- Infertile - Short stature - Webbed neck - CVS/Renal abnormalities |
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Kleinfelter's Syndrome (Clinical Signs)
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XXY
- Hypogonadism - Gynecomastia (abnormally large breasts) - Azoosperma - Taller - Mild learning difficulties |
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Incidence of Turner's?
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1 in 5,000
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Incidence of Kleinfelter's Syndrome?
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1 in 1,000
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Incidences of balanced translocation?
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1 in 5,000
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Proband
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The first person to present with a genetic condition whom is followed and studied.
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Huntington's Disease
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- Autosomal Dominant
- Caused by a trinucleotide repeat - Chromosome 4 - CAG - Normal <27>36 Causes dementia. |
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Genetic Heterogeneity
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Diff mutations cause the same disease
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Variable Expressivity
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Severity of phenotype differs
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Anticipation
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Appear at earlier age of onset with increasing generations
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Genetic Imprinting
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A Parent-of-origin effect
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Cystic Fibrosis
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- Autosomal Recessive
- Delta 508 most common - Deletion of Phenylalanine - Mutation in CFTR - Chloride expulsion |
