A chromosome 21‐specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei
- 1 August 1995
- journal article
- Published by Wiley in Prenatal Diagnosis
- Vol. 15 (8) , 705-711
- https://doi.org/10.1002/pd.1970150805
Abstract
Fluorescent in situ hybridization (FISH) with a 21q11‐specific probe (CB21c1) consisting of three non‐overlapping cosmids has been applied to interphase amniocytes of pregnancies at increased risk for fetal aneuploidy (N = 78) and to interphase lymphocytes, cultured and uncultured, of patients referred for Down syndrome (N = 19 and 28, respectively). In the uncultured amniocytes, six chromosome aberrations were detected: three cases of trisomy 21, a triploidy, a de novo 46,XX,t(21q21q), and a mosaic 46,XY/47,XY,+dic(21)(q11)/48,XY,+dic(21)(q11), +del(21)(q11). In 15 cultured and 20 uncultured blood samples, FISH correctly diagnosed trisomy 21 (full or mosaic) at the interphase level, which was confirmed in all cases by subsequent karyotyping. Because of specific and strong signals in interphase nuclei, CB21c1 appears to be a useful tool for the rapid detection of chromosome 21 abnormalities.Keywords
This publication has 22 references indexed in Scilit:
- Fluorescence in situ hybridization with a chromosome 21‐specific cosmid contig: 1‐day detection of trisomy 21 in uncultured mesenchymal chorionic villus cellsPrenatal Diagnosis, 1994
- Fetal aneuploidy diagnosed by fluorescence in-situ hybridisation within 24 hours after amniocentesisThe Lancet, 1993
- Detection of Fetal Trisomies 21 and 18 From Maternal Blood Using Triple Gradient and Magnetic Cell SortingAmerican Journal of Reproductive Immunology, 1993
- Fluorescent in-situ hybridisation and Down's syndromeThe Lancet, 1993
- Rapid detection of aneuploidy in uncultured chorionic villus cells using fluorescence in situ hybridizationPrenatal Diagnosis, 1993
- Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in situ hybridization using a cosmid contigPrenatal Diagnosis, 1992
- Variations in alphoid DNA sequences escape detection of aneuploidy at interphase by FISH techniqueGenomics, 1992
- Prenatal diagnosis with repetitive in situ hybridization probesAmerican Journal of Medical Genetics, 1992
- New rapid test for prenatal detection of trisomy 21 (Down's syndrome): preliminary report.BMJ, 1992
- In situ hybridization studies for the detection of common aneuploidies in CVSPrenatal Diagnosis, 1992