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17 terms

Chrom translocations & HLA & Genetics

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t(9;22)
CML
t(8;14)
Burkitt's lymphoma
t(14;18)
Follicular lymphoma
t(15;17)
AML
t(11;22)
Ewing's sarcoma
t(11;14)
Mantle cell lymphoma
HLA DR2
goodpastures, allergy, MS, narcolepsy
HLA DR3
celiac sprue, DM I, SLE,Sjögren's
HLA DR4
phemigus vulgaris, RA, DM I, lyme disease
HLA DR5
pernicious anemia, RA,Hashimoto's thyroiditis
HLA A3
primary hemachromatosis
HLA B27
ankylosing spndylitis, IBS, Reiter's Syndx, psoriatic arthritis
HLA B8
Graves' disease, celiac sprue
del(22.q11.2)
Digeorge Syndrome (CATCH 22)
Patau syndrome
aka trisomy 13, mental retardation, microcephaly, micropthalmia, brain abnormalities, cleft lip/palate, polydactyly, rockerbottom feet, congenital heart dx, path brs p51
trisomy 13
Patau syndrome
Osler-Weber-Rendu Syndrome
Hereditary Hemorrhagic Telangiectasia