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unbalanced translocation

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unĀ·balĀ·anced translocation (n-blnst)
n.
A condition, resulting from fertilization of a gamete containing a translocation chromosome by a normal gamete, in which a segment of the translocation chromosome is represented three times in each cell and a trisomic state exists even though the individual has 46 chromosomes.


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PGD for detection of aneuploidies and unbalanced translocations utilizes fluorescent in situ hybridization (FISH) in which a DNA probe that is coupled with a colored fluorescent marker is hybridized to the DNA in the test sample.
A karyotypic abnormality in SPENP has been described in a 43-year-old black woman; the abnormality consisted of an unbalanced translocation between chromosomes 13 and 17: der(17)t(13:17)(q14:p11).
 
 
 
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