Objective: To analyze the chromosome structural aberration in a case of unbalanced chromosome translocation by fluorescence in situ hybridization technique.
Methods: The 1,18 whole chromosome specific painting probe were used to confirm chromosome abnormality suggested by high resolution G-banding examination.
Results: An unbalanced translocation t(1;18)(q42;q22) was detected in the patient, which caused partial trisomy of 1q42-qter and partial monosomy of 18q22-qter.
Conclusion: The identified translocation suggested a potential site for congenital heart disease.