HLTH 210 Study Guide - Midterm Guide: Transferase, Autism Spectrum, Vinclozolin
9 Jun 2015
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True frequency of human aneuploidy unknown but at least 5-7% and maybe up to 20% As you go back in time, more & different kinds of aneuploidy: spectrum of aneuploidies in gametes and pre-implantation embryos (i. e. from ivf) is broader. Produces gametes with incorrect # of chromosomes other than 23. Results in zygotes that are aneuploid after fertilization. If haploid gamete is missing a chromosome monosomic zygote (2n-1) If haploid gamete has extra chromosome trisomic zygote (2n+1) Trisomy 13 (+13) & trisomy 18 (+18) Sex chromosome trisomies: fairly mild compared to somatic: klinefelter"s syndrome xxy males, triple-x syndrome xxx females, xyy syndrome; super-males , turner"s syndrome, 45x females, only nonlethal monosomy. Cognitive impairment, problems in thinking & learning, delayed language & speech. Physical symptoms flattened facial profile and nose: poor muscle tone, upward slanting eyes, small head, ears, mouth. Associated conditions: heart abnormalities, hearing and vision problems.
