title: Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in situ hybridization using a cosmid contig.
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.
authors.affiliation: Department of Pathology, University of Cambridge, U.K.
authors.forename: Y L
authors.initials: YL
authors.lastname: Zheng
authors.forename: M A
authors.initials: MA
authors.lastname: Ferguson-Smith
authors.forename: J P
authors.initials: JP
authors.lastname: Warner
authors.forename: M E
authors.initials: ME
authors.lastname: Ferguson-Smith
authors.forename: C A
authors.initials: CA
authors.lastname: Sargent
authors.forename: N P
authors.initials: NP
authors.lastname: Carter
mesh_terms: D000649:Amniocentesis; D015825:Chromosomes, Fungal; D002891:Chromosomes, Human, Pair 21; D003360:Cosmids; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D015723:Gene Library; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008856:Microscopy, Fluorescence; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D015183:Restriction Mapping; D012189:Retrospective Studies