Frequency of tri- or multiradial configurations in fragile X identification

Using the FUdR system for fragile X induction, we have observed no triradial or bisatellited configurations at fra (X)(q27.3) in over 5,000 fra(X) chromosomes examined from over 150 fra(X) individuals. Based on our observations, and those of Turner and Jacobs (1983) and Daniel et al (1984), we hypot...

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Veröffentlicht in:American journal of medical genetics 1986-01, Vol.23 (1-2), p.531-535
Hauptverfasser: Jenkins, Edmund C., Duncan, Charlotte J., Krawczun, Michael S., Berns, Lisa M., Sanz, Maureen M., Brown, W. Ted, Opitz, John M., Reynolds, James F.
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Sprache:eng
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Zusammenfassung:Using the FUdR system for fragile X induction, we have observed no triradial or bisatellited configurations at fra (X)(q27.3) in over 5,000 fra(X) chromosomes examined from over 150 fra(X) individuals. Based on our observations, and those of Turner and Jacobs (1983) and Daniel et al (1984), we hypothesize that triradial configurations may not occur at Xq27 with FUdR induction. To test this hypothesis we cultured whole blood simultaneously in parallel folate‐deficient and FUdR fra(X) induction systems, and systematically examined fra(X) chromosomes for triradials. Neither autosomes nor X chromosomes exhibited any apparent triradial figures in the FUdR system, while 1.4% of the fra(X) chromsomes in TC 199 exhibited a triradial. Also we observed one autosomal triradial at 4q35. We conclude that triradial configurations, occur in low frequencies in the folate deficient system and seldom if ever in the FUdR system.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320230145