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| Are gain of func or loss of func mutants more common | loss of func
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| disorder of connective tissue. autosom dom. defect in fibrillin-1. tall w long extremities, 2x jointed, spinal deformities, long head, pectus deformities, cardiovasc (mitral valve prolapse and ascending aorta dilation). | Marfan synd
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| defect in synth or struct of fibrillar collagen. stretchy skin (vulnerable to trauma), hypermobile joints. can have rupture of colon and large aa. (vascular), rupture of cornea/retina detach (kyphoscoliosis: m.c.), diaphrag hernia (classic) | Ehlers-Danlos synd
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| mutant LDL receptor->elevated cholesterol->premature atherosclerosis. diverts more IDL toward LDL. class 1-5 muts: synth, transport, binding, internalize, recycle. | Familial Hypercholesterolemia
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| most common GM2 gangliosidosis->def hexosaminidase A. Ashkenazis. ganglioside accums mostly in retina->cherry red spot in macula. incoordination, flaccidity, blind, dementia. death by 3 y/o | Tay-Sachs
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| lysosomal accum of sphingomyelin d/t def sphingomyelinase. Type A=severe infant form w neuro involve, wasting and early death, foamy cytoplasm w "zebra bods". Type B=organomegaly, no CNS involve, survive to adult. Ashkenazis. HEPATOSPLENOMEGALY | Niemann-Pick A+B disease
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| mutant NPC1. cells accum cholest and gangliosides. presents as hydrops fetalis/stillbirth, neonatal hepatitis, chronic w neuro damage. More common. | Niemann-Pick C disease
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| most common lysosomal store disorder. mut glucocerebrosidase. Glucocerebroside accum in phagocytes. type 1=mostly splenic and skeletal, non-neuronopathic. type 2=neuronopath, infants, hepatosplen still, no glucocerebroside in tissues. | Gaucher disease
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| coarse facial feats, cloudy cornea, stiff joints, MR, urinary excrete of dermatan/heparan/keratan/chondroitin sulfates. | Mucopolysaccharidoses
- Hurler synd=def Alpha-1-iduronidase. severe, death by 6-10 y/o.
- Hunter synd=X-linked, no cornea clouding, milder.
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| def G6P->hepatomegaly and hypoglycemia. Hepatic form | von Gierke disease
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| def muscle phosphorylase->muscle cramps and low lactate lvls in blood after exercise. Myopathic form | McArdle disease
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| def acid maltase->cardiomegaly | Pompe disease
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| lack of homogentisic oxidase->black urine, blue-black tendons/cartilage (ears/nose/cheek). brittle, fibrillated IV discs | Alkaptonuria
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| chromosome consisting of two long or two short arms only | Isochromosome
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| Most common chromosomal disorder and major cause of MR. flat face, epicanthic folds, simian crease, lots neck skin, heart defects(septal defects). increased risk of leukemias and Alzheimer. | Trisomy 21=Down synd.
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| prominent occiput, MR, small mouth, low ears, short neck, overlapped fingers, heart defects, horseshoe kidney, rocker-bottom feet | Trisomy 18=Edwards synd
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| small head, polydactyly, small eyes, cleft lip/palate, heart defects, rocker-bottom feet | Trisomy 13=Patau synd
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| heart defects, palate probs, facial probs, T-cell immunodef (thymic hypoplasia) and hypocalcemia (parathyroid hypoplasia). high risk schizo and bipolar | DiGeorge synd
- 22qll.2 deletion
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| male hypogonadism when there are 2 or more X chromos and 1 or more Ys. Elongated body/legs, atrophic testes, small penis, lack of deep voice/beard/male pubic hair, gynecomastia. increased type 2 diabetes and mitral valve prolapse. High FSH, Low testost. | Klinefelter synd
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| complete or partial monosomy of X chromo, hypogonadism in phenotypic females. most common sex chromo abnorm in females. neck web, short, low post. hairline, broad chest, coarctation of aorta, infertile, AMENORRHEA (most imp cause). | Turner synd
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| X-linked mut familial mental retard-1 gene, CGG repeat expansion. MACRO-ORCHIDISM, large mandible, large everted ears, mitral valve prolapse. | Fragile-X synd
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| MR, short, hypotonia, hyperphagia, obesity, small hands/feet, hypogonad. del in paternal chromo 15. | Prader-Willi
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| MR, ataxia, seizures, inappropriate laughter (happy puppets). del in maternal chromo 15. | Angelman synd
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