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Translocation

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Translocation:

  • a translocation involves the breakage and removal of a large segment of DNA from one chromosome, followed by the segment's attachment to a different chromosome
    • a balanced (reciprocal) translocation is an even swap made between two chromosomes
      • if the exchange results in no loss or gain of DNA, the individual is clinically normal and is said to have a balanced translocation and is a translocation carrier. He/she is, however, at risk of having a chromosomally abnormal baby (an unbalanced translocation.)
    • a Robertsonian translocation occurs when the long arms of two acrocentric chromosomes fuse at a centromere, and the two short arms are lost
  • abnormalities resulting from an unbalanced translocation depend on the particular chromosome fragments present in monosomic or trisomic form. Sometimes spontaneous abortion is inevitable; in other cases a child with multiple abnormalities may be born alive
  • risk of an unbalanced karyotype in a child depends on the individual translocation. Once a translocation has been identified it is important to investigate relatives to identify carriers of the balanced translocation so that genetic information and prenatal diagnosis can be offered

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