GEN-3000 Chapter Notes - Chapter 6: Genetic Testing, Robertsonian Translocation, Cytogenetics
Document Summary
Chapter 6, chromosome mutations: variation in number and arrangement. Chromosome aberrations: also called chromosome mutations, duplication, deletion, or rearrangement of the diploid chromosomal content of an organism. Variation in chromosome number: aneuploidy the loss or gain of one or more chromosomes, but not of an entire set. Monosomy the loss of a single chromosome. Haploinsufficiency the amount of protein produced by the one copy of the gene is insufficient for sustaining life. This can unmask the effects of recessive lethal alleles. Trisomy the gain of a single chromosome. Trisomic plants are more viable than trisomic animals. Trisomic plants may exhibit a novel phenotype. Trisomy 21: down syndrome, the only autosomal trisomy that is not lethal in humans, symptoms. Protruding, furrowed tongue that prevents the mouth from closing properly. Reduced risk for solid tumors: the region of the chromosome that contains the genes that are dosage sensitive (in trisomy 21) is called the down syndrome.
