FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labelled cosmid contigs.
نویسندگان
چکیده
Techniques have been reported in which fluorescence in situ hybridisation (FISH) and cosmid probes are used to detect trisomy 21 (and other abnormalities involving chromosomes X, Y, 13, and 18) on uncultured amniocytes. However the detection rate of trisomy 21 is lower than for the other anomalies owing to a larger number of uninformative results and false negatives. We report the simultaneous use of two differentially labelled cosmid contigs to improve the detection rate of trisomy 21 on uncultured amniocyte samples thus allowing the prenatal diagnosis of Down's syndrome even if only few labelled nuclei are available.
منابع مشابه
Development of a probe consist of three cosmids to enumerate the chromosome 13 on uncultured lymphocytes or amniocytes using interphase FISH
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عنوان ژورنال:
- Journal of medical genetics
دوره 31 9 شماره
صفحات -
تاریخ انتشار 1994