J Xia1, Z Yin, H Dai, Z Xue, Y Chen, Q Pan, L Ning. 1. National Laboratory of Medial Genetics, Hunan Medical University, Changsha, Hunan, 410078 P.R. China. nlmglcy@public.cs.hn.cn
Abstract
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.
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.