Pathology 3240A Lecture Notes - Heteroplasmy, Haploinsufficiency, Aneuploidy

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2x22 autosomes +2 genosomes (xx or xy) = 46 chromosomes aneuploidy: abnormal number or chromosomes disomic (normal, two sister chromosomes) trisomic (one extra chromosome) down syndrome: monosomic (one chromosome missing) tumer syndrome, structural abnormalities deletion, duplication, translocation, inversion ex. Non mendelian inheritance trinucleotide/triple repeat expansion: ie. huntingtons disease, fragile x disease, sites of expansion can be in coding or non coding regions of gene, expansions are associated with neurodegenerative disorders, can be a gain of function (huntingtons disease) or loss of function (fragile. X syndrome: all have threshold for repeats everyone has repeats once you reach threshold, then you can develop disease the penetrance not high unless you reach threshold the longer the repeats, earlier the penetrance of the disease, all have cg nucleotides, can be on autosomes or x chromosomes, number of triplets in muant alleles differs for different diseases, when certain threshold is met for normal number of triplet repeats .

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