High-resolution chromosome analysis: I. Applications and limitations

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Abstract
High‐resolution chromosome preparations were examined in 55 couples experiencing multiple spontaneous abortions to determine if such studies might provide additional cytogenetic information. One translocation [46,XY, t(14;18)(q32;q22.2)] was detected that was not observed on routine metaphase preparations (GTG banding). In addition, an abnormality (not from the original sample) suspected on routine analysis was accurately identified as [46,XY, dir ins(12;21) (p12.3;q22.‐1q22.2)] only after high‐resolution studies. Metaphases with a total of 500–650 discernible bands per haploid set are most informative for high‐resolution analysis of a complete karyotype. Chromosomes yielding this number of bands demonstrate 6.7–14.2% homolog discordance and usually require only three to five karyotypes to reach a diagnosis. GTG proved more effective than RBG banding in conjunction with high‐resolution studies.