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Chromosomal Abnormalities: The gain, loss or rearrangement of visible amounts of genetic material

Chromosomal Abnormalities: The gain, loss or rearrangement of visible amounts of genetic material. Types of mutations and examples. Types of Chromosomal Mutations.

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Chromosomal Abnormalities: The gain, loss or rearrangement of visible amounts of genetic material

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  1. Chromosomal Abnormalities: The gain, loss or rearrangement of visible amounts of genetic material Types of mutations and examples

  2. Types of Chromosomal Mutations • add = Addition materialdel = Deletionde novo = A chromosome abnormality which has not been inheriteddic Dicentricdup = Duplicationfra = Fragile Siteidic = Isodicentric chromosomeins = Insertioninv = Inversion

  3. Types of Chromosomal Mutations cont. • i or iso = Isochromosomemat = Maternal originmos = Mosaicpat = Paternal origin r = Ring chromosomercp = Reciprocalrea = Rearrangementrec Recombinant chromosomerob = Robertsonian translocationt = translocationupd = Uniparental disomy? = Uncertain

  4. Mutation links • http://www.accessexcellence.org/RC/VL/GG/mutation.html • http://www.genome.gov/11508982#6 • http://www.thedoctorwillseeyounow.com/articles/other/genome_4/index.shtml

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