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Updated: Oct 7, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Study of a familial insertional translocation involving chromosomes 1 and 7 by using fluorescence in situ
1Human Reproductive Engineering Laboratory, Xiangya Medical College of Central South University, Changsha, Hunan 410078 P. R. China. yqtan@public.cs.hn.cn
Objective:
To determine the karyotype of a case with a history of spontaneous abortion and terminal deletion by using of conventional G-banding method and search the cause of insertional translocation of chromosomal terminal region.
Methods:
Fluorescence in situ hybridization (FISH) technique was performed to analyze the case by using whole chromosome 7 painting probe and subterminal probe of 7q36-->qter which was generated by chromosome microdissection technique.
Results:
The case was a carrier with a very rare insertional translocation involving chromosomes 1 and 7. The region of chromosome 7q36-->qter was not inserted into chromosome 1. The abnormal chromosome was inherited from her mother.
Conclusion:
The present authors provided an experiment evidence that in this case the chromosome insertional translocation including the terminal region was still a three breakage rearrangement and the terminal deletion found by cytogenetics should be an interstitial deletion. Combining with chromosome microdissection, FISH technique is a powerful diagnostic method for detecting the chromosome structural abnormality.
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