Science Quiz / Genetic Diseases

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Can you name the Genetic Diseases?

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Score 0/23 Timer 10:00
AD or XLRNamemisc
ADfibroblast FGF receptor 3 defect. Head and trunk nl size
ADAlways bilat. Hematuria, flank pain, PRF. Q16 (16 letters in PK). A/w berry aneurysm, MVP. Infantile form is AR!
ADAPC Q5. polyps after puberty, prog to CA.
ADdefective LDL receptor. Homo>700, hetero >300. xanthomas. MI a/ 20yo
ADAVMs, telangiectasias, nosebleeds, skin discolorations
ADapectrin or ankyrin dfx. Splenectomy is curative.
ADURE of CAG. Dec ACh and GABA. Onset 20-50. Q4. 'hunting 4 food'
ADFibrillin, CT d/o. Pectus excavatum, hyperextensive joints, arachnodactyly, aoritc cystic medial necrosis, dissection. MVP. Lens subluxation
ADfamilial endocrine tumors. Parathyroid, Pituitary, Pancreatic, Ad Med. MEN 2A/B a/w ret gene
ADcafé-au-lait, neural tumors, CNVIII schwanoma, Lisch nodules (iris hamartoma), scoliosis. Q17.
ADharmartin or tuberin protein dfx (TSC1/2 gene mutations). adenoma sebaceum (facial lesions), hypopigmentations, cortical&retinal hamartomas, Sz, MR, renal cysts. Astrocytomas. Cardiac Rhabdomyoma. Incomplete penetrance and variable expression!
ADbilat renal cell carcinoma. Del of VHL gene (TSG leads to zctivation of angiogenic GFs and HIF expression. Q3p. (3 words).
AD or XLRNamemisc
XLR(also AR and AD bc of locus heterogen)
XLRBTK def. No mature Ig.
XLR('C'olor Blindness)
XLR(Duschene and Beckers)
XLRLysosomal SD.
XLRLysosomal SD.
XLRhyperuricemia, self mutilation
XLReczema, TTP, bloody diarrhea, o/ prog to leuk/lymphoma. Dec IgM, Inc IgE/A

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