BICD 100 Study Guide - Midterm Guide: Trisomy, Nondisjunction, Aneuploidy

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Linkage and chromosomal aberrations variation in chromosome number and arrangement: 2 general classes: class 1: changes in chromosome number. Aneuploidy: one or more chromosome pairs have different number of chromosomes than usual. Chromosomes disjoin/separate 2 different times in meiosis. Ex: turner syndrome (45, x: xx fe(cid:373)ales ha(cid:448)e o(cid:374)e (cid:858)acti(cid:448)e(cid:859) x. Still have one chromosome recessive lethal alleles exist: if you have 2 copies, you never develop. Haploinsufficiency: one copy of the gene is not enough to survive trisomy. 10-20% of known pregnancies end in miscarriage. Half of all pregnancies end in miscarriage increased rate 35-40 years old. Down syndrome: 92% maternal gamete, 8% paternal gamete. Mosaic down syndrome (1-2. 5%: nondisjunction occurs during mitosis early in development, fraction of cells in body are trisomic, often see continuum of phenotypic changes depending on portion of trisomy. Inherited from parents from translocation in one parent: combines 14th and 21st chromosome. Euploidy: changes in number of all chromosomes.

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