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balanced translocation

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balanced translocation
n.
Translocation of the long arm of an acrocentric chromosome to another chromosome, accompanied by loss of the small fragment containing the centromere.

balanced translocation,
the transfer of segments between nonhomologous chromosomes in such a way that the configuration and total number of chromosomes change but each cell contains the normal amount of diploid or haploid genetic material. Usually the long arm of an acrocentric chromosome is transferred to another chromosome, and the small fragment containing the centromere is lost, leaving only 45 chromosomes. A person with a balanced translocation is phenotypically normal but may produce children with trisomies. Compare reciprocal translocation, robertsonian translocation.


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Of 3 cytogenetically informative cases, one revealed a clonal balanced translocation t(10;17)(q22;p13) and an interstitial deletion of chromosome 14, del(14)(q24.
When a parent is a known carrier of a balanced translocation, PGD can be used to assure that in vitro fertilized embryos are free of an unbalanced chromosome constitution resulting from the parental translocation.
 
 
 
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