FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labelled cosmid contigs.
Level V
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- Record sourced from PubMed, PMID 7815435.
- Also identified by PMC identifier 1050076.
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Abstract
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.
Medical subject headings
- Cosmids
- Down Syndrome