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Chromosome Abnormalities

Chromosome Abnormalities. Changes in chromosomal structure. Chromosomal changes can occur spontaneously or from radiation or exposure to certain chemicals There are four means of chromosomal changes:. Deletion.

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Chromosome Abnormalities

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  1. Chromosome Abnormalities

  2. Changes in chromosomal structure • Chromosomal changes can occur spontaneously or from radiation or exposure to certain chemicals • There are four means of chromosomal changes:

  3. Deletion • In deletion, part of the chromosome is actually lost. Viruses, radiation and chemicals can cause a piece of a chromosome to become dislocated. • This piece may carry a specific gene which may have a large effect on the host.

  4. Cri-du-chat • Missing piece of chromosome 5 • Causes an abnormally developed larynx • Affected infants cries sound like the mewing of a cat

  5. Duplication • In duplication, a gene sequence is repeated one or more times within a chromosome • At some point, too many repeats can affect the function of the gene

  6. Fragile X Syndrome • A specific sequence on chromosome X, normally repeated 29 times, is repeated 700 times! • Most common cause of autism

  7. Inversion • In inversion, a gene segment momentarily becomes free from its chromosome and then reinserts in the opposite order. • This can completely alter the gene’s activities

  8. Translocation • In translocation, part of a chromosome changes place with another part of either the same or a non-homologous chromosome. • Translocation can result in some cancers, Down Syndrome, and leukemia

  9. Translocation and Disease • Linked to: • Cancer • Infertility: • Down syndrome

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