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  • Title: [Study of a familial insertional translocation involving chromosomes 1 and 7 by using fluorescence in situ hybridization].
    Author: Tan Y, Li X, Li L, Lu G.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Jun; 18(3):183-6. PubMed ID: 11402445.
    Abstract:
    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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