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14 Cards in this Set
- Front
- Back
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Neurofibromatosis NF1
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100% penetrant at some point during lifetime
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Diagnosis of NF1
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1. 6 or more cafe au lait maculues
2. Skinfold freckling where the sun don't shine 3. 2 or more neurofibromas 4. Optic glioma 5. Two or more Lisch nodules (abnormal spots on iris) 6. Osseous lesion 7. A first degree relative |
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Neurofibromatosis NF 2
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100% penetrance
Due to mutations in the merlin gene |
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Wolf-Hirschhorn syndrome
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-loss of terminal material from short arm of chromosome 4
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Phenotypic features of
Wolf-Hirschhorn syndrome |
-Profound mental retardat\ion
-severe grand mal -minor motor seizures -ocular hypertelorism -micrognathia (small jaw) |
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Cri-du-chat syndrome
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deletion of 5 p
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Symtomes of Cri-du-chat syndrome
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-cat-cry
-micrognathia -microcepthaly -hyperteleorism -epicanthal folds -low set ears |
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Mechanism for microdeletions of cri-du-chat?
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Recombination error leading to duplication & deletion of chromosomes
Ie: sliding during recombination |
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Velocardial facial syndrome or Digeorge syndrome
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-Have chromosome 22q11
-abnormality of 3th & 4th branchial arches |
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Phenotype for Velocardial facial syndrome or digeorge syndrome?
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-cleft lip
-increased risk of schizoprhenia -Heart defects |
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What tools do we use to diagnosis velocardial facial syndrome?
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5% deletions detected by karotype analysis and 95% by FISH bc 22q11 is very tiny.
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What percent of patients have a parent that also has 22q11 deletion detectable?
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10%
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Williams Syndrome
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Chromosme 7q11.23 microdeletion
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phenotype of williams syndrome
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-Periorbital puffiness
-Stellate iris -Full cheeks -Microcephaly -Supravalvular aoritc sentosis -bladder weak -hypercalcemia "stones, bones & abdominal groans" -full lips -have proclivity towards music, very charming personality |
