Zheng Y L, Ferguson-Smith M A, Warner J P, Ferguson-Smith M E, Sargent C A, Carter N P
Department of Pathology, University of Cambridge, U.K.
Prenat Diagn. 1992 Nov;12(11):931-43. doi: 10.1002/pd.1970121113.
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.
