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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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changes in chromosomal structure
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
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.
cri du chat
Cri-du-chat
  • Missing piece of chromosome 5
  • Causes an abnormally developed larynx
  • Affected infants cries sound like the mewing of a cat
duplication
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
fragile x syndrome
Fragile X Syndrome
  • A specific sequence on chromosome X, normally repeated 29 times, is repeated 700 times!
  • Most common cause of autism
inversion
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
translocation
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
translocation and disease
Translocation and Disease
  • Linked to:
    • Cancer
    • Infertility:
    • Down syndrome