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  • Title: Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis.
    Author: Wang H, McLaughlin M, Thompson C, Hunter AG.
    Journal: Am J Med Genet; 1993 Jun 15; 46(5):559-62. PubMed ID: 8322821.
    Abstract:
    A balanced complex chromosome rearrangement (BCCR) involving 3 chromosomes with 4 breakpoints, was identified in a 36-yr-old woman who was studied because her fetus was discovered to have an unbalanced reciprocal translocation (7q;10q). Analysis of high resolution bands and the application of fluorescence in situ hybridization has identified the BCCR as der(7)t(7;10)(q21.13;q23.33)ins(21;7)(q21.3;q11.22q21.13), der(10)t(7;10)(q21.13; q23.33), der(21)ins(21;7)(q21.3;q11.22q21.13). Alternate segregation of the BCCR appears to be favoured, and has resulted in two pregnancies with an unbalanced chromosome constitution.
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