Cytogenetics: Chromosome Mutations, Aberrations & Evolution. Chromosomes. Prokaryote Eukaryote. Eukaryotic chromosomes. Human karyotype. Why do we care?. Many diseases and birth defects are a direct result of missing, broken, or extra chromosomes. Down Syndrome Cri du chat Syndrome
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Many diseases and birth defects are a direct result of missing, broken, or extra chromosomes.
Ionizing radiation (production of free radicals, which act like little atomic "cannon balls", blasting through strands of DNA or c'somes.
Why do they rejoin?
Break points of chromosomes are highly reactive ("sticky"), whereas normal ends of c'somes are capped by telomeres, which do not readily bond to other molecules.
_________________ __________________ will affect both newly formed chromatids, & all daughter cells arising from them.
Slow motor skill development
Low birth weight and slow growth
Small head (microcephaly)
Partial webbing of fingers or toes
Wide-set eyes (hypertelorism)
High-pitched cryCri-du-chat Syndrome
______________ __________________ will affect both newly formed chromatids, & all daughter cells arising from them.
______________Duplications: source of evolutionary novelty?
Duplication is a source of new genes over evolutionary time: e.g., gene families like globins and MHC genes