The Relationship Between Congenital Anomalies and Autosomal Chromosome Abnormalities ‡

In the three years since convenient methods of human chromosome analysis have been available, three distinct syndromes involving an extra chromosome, other than the X-chromosome, have been described. The clinical findings in mongolism, the first of these three autosomal trisomies to be discovered, are generally known. The features of the syndromes associated with trisomy for a chromosome in the 13-15 group and 17-18 group are outlined in Table 1. It is the purpose of the present study to delineate the relationship of multiple anomalies to trisomy more closely, to further describe the autosomal trisomic syndromes and to evaluate the clinical usefulness of chromosome determinations in patients with multiple anomalies.