Chromosomal Translocation - Role in Disease

Role in Disease

Some human diseases caused by translocations are:

  • Cancer: several forms of cancer are caused by acquired translocations (as opposed to those present from conception); this has been described mainly in leukemia (acute myelogenous leukemia and chronic myelogenous leukemia). Translocations have also been described in solid malignancies such as Ewing's sarcoma.
  • Infertility: one of the would-be parents carries a balanced translocation, where the parent is asymptomatic but conceived fetuses are not viable.
  • Down syndrome is caused in a minority (5% or less) of cases by a Robertsonian translocation of the chromosome 21 long arm onto the long arm of chromosome 14.

Read more about this topic:  Chromosomal Translocation

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