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Chapters 15.4-15.5

Genetic Disorders, Exceptions to Mendel's Laws

QuestionAnswer
nondisjunction pairs of homologous chromosomes do not separate normally during meiosis -meiosis 1 = two gametes receives 2 of the same chromosome and two receives none -meiosis 2 = one gamete receives 2 of same chromosome and one receives none
aneuploidy abnormal number of particular chromosome that results from the fertilization of gametes in which nondisjunction occurred
monosomic a particular cell has only one copy of a chromosome
trisomic a particular cell has three copies of a chromosome
polyploidy condition in which an organism has more than 2 complete sets of chromosomes in all somatic cells -ex: triploidy = 3n chromosomes -common in plants
deletion removes a chromosomal segment
duplication repeats a segment
inversion reverse orientation of segment within a chromosome
translocation moves segment from one chromosome to another
down syndrome aneuploid condition that results from 3 copies of chromosome 21
klinefelter syndrome when there's an extra x chromosome (xxy), resulting in biological male, but infertile
trisomy x extra x chromosome (xxx), females who are often healthy with no unusual physical features
turner syndrome monosomy X in females, sterile, and only known monosomy in humans
cml (chronic myelogenous leukemia) reciprocal translocation occurs during mitosis process of cells that will become white blood cells -chromosome 22 and 9 switch segments
genomic imprinting the phenotype depends on which parent passed along the alleles for the trait -most imprinted genes are critical for embryonic development -involves silencing of certain genes
extranuclear genes genes located in the mitochondria, chloroplast, and other plant plastids -inherited maternally because zygotes of cytoplasm come from egg
maternal mitochondria disease 1. Mitochondrial Myopathy - defect in mitochondria 2. Leber's Hereditary Optic Neuropathy - blindness in individuals 20-30 years old
Created by: maddiemiller
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