Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis.
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.
Wang
H
H
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
McLaughlin
M
M
Thompson
C
C
Hunter
A G
AG
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002873:Chromosome Fragility; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy