Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in situ hybridization using a cosmid contig
- 21 November 1992
- journal article
- Published by Wiley in Prenatal Diagnosis
- Vol. 12 (11), 931-943
- https://doi.org/10.1002/pd.1970121113
Abstract
A comparison of the use of chromosome 21‐specific libraries, DOP‐PCR 21 paints, yeast artificial chromosome (YAC) clones, single cosmids, and a 21q cosmid contig as probes for the detection of the copy number of chromosome 21 in interphase cells by fluorescence in situ hybridization shows that the cosmid contig is a satisfactory probe for interphase analysis of chromosome 21. The contig cCMP21.a, which is 55 kb in length, is highly chromosome 21‐specific and produces intense, compact signals in a high proportion of interphase cells. A retrospective blind analysis of coded uncultured amniotic fluid samples correctly detected four trisomy 21 cases out of 49 samples.Keywords
This publication has 18 references indexed in Scilit:
- Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics.Journal of Medical Genetics, 1992
- A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogeneticsClinical Genetics, 1991
- Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84Clinical Genetics, 1991
- Clinical applications of fluorescence in situ hybridizationGenetic Analysis: Biomolecular Engineering, 1991
- Fluorescent in-situ hybridization to interphase nuclei of human preimplantation embryos with X and Y chromosome specific probesHuman Reproduction, 1991
- Human chromosome-specific DNA libraries: construction and purity analysisCytogenetic and Genome Research, 1989
- Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probesHuman Genetics, 1988
- Prenatal diagnosis with biotinylated chromosome specific probesPrenatal Diagnosis, 1988
- Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21Cytogenetic and Genome Research, 1986
- Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative european study on 52 965 amniocentesesPrenatal Diagnosis, 1984