Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis

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Abstract
A balanced complex chromosome rearrangement (BCCR) involving 3 chromosome with 4 breakpoints, 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.