A Study on Complicated Chromosome Translocation by Fluorescence in situ Hybridization (FISH) of G-banded Chromosomes

An experimental method of fluorescence in situ hybridization (FISH) with conventionally G-band chromosomes was developed to analysize the complex chromosome rearrangements of patients. In order to obtain optimal results of both G-banding and fluoresence signals, it was essential that G-bandsed chromosomes were fixed with formaldehyde prior to fluorescence in situ hybridization. The karyotype of a patient with spontaneous abortion might be decribed as 46, XX, t(1; 5; 12) (1pter→1q25 : : 12q24→12qter; 5qter→5p11 : : 1q25→1qter; 12pter→12q24 : : 5p11→5pter) by the analysis of conventional cytogenetics. However, her karyotype should be identified as 46, XX, t(1; 5; 12) (1pter→1q23 : : 12q22→12qter; 5qter→5p11 : : 1q25→1qter; 12pter →12q22 : : 1q23→1q25 : : 5p11→5pter) with this newly established method. This investigation indicates that this technique described above is a powerful tool to detect complex chromosome rearrangements of patients.