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12 Cards in this Set
- Front
- Back
Neurofibromatosis
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Autosomal dominant inheritance
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NF1
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-Complete penetrance, but age of onset variable, and variable expressivity
-Diagnosis: clinical exam NOT chrom. analysis |
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NF2
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-Due to mutation in merlin gene
-diagnosis: by clinical exam |
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Criteria for diagnosising NF
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1. Six or more cafe au lait macules
2. Skinfold freckling 3. Two or more neurofibromas of any type 4. Optic glioma 5. Two or more Lisch nodules (abnormal spots on iris) 6. Osseous lesion or thinning of long bone 7. First degree relative with NF2 |
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Marfan Syndrome
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-Autosomal dominant
-Mutation in fibrillin -Primarily missense, but nonsense & frameshift mutation also -dominant negative (results in severe phenotype) |
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Gross chromosomal changes, alteration of the number of chromosomes and in banding patterns of each chromosome.
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Can be detected by karyotype
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Subtle changes in chromosome, small deletions, small insertions, nucleotide changes require what tool?
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FISH probes
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Examples of common micro-deletion syndromes
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1. Wolf-Hirschhorn syndrome
2. Cri-du-chat syndrome 3. VeloCardial Facial syndrome 4. Williams syndrome |
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Wolf-Hirschhorn syndrome
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Loss of terminal material from 4p
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Cri-du-chat syndrome
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Deletion of 5p region
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VeloCardial Facial syndrome or DiGeorge Syndrome
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Chrom. microdeletion
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Williams syndrome
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Chrom. microdeletion
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