Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome

Abstract

Analysis of 207 case reports on patients with ring autosome showed that: Forty patients, a fifth of the total, had extreme growth failure together with an otherwise almost-normal appearance, viz. no major malformation, no specific deletion syndrome, no or only a few unspecific minor anomalies. This phenotype may be regarded as the "ring syndrome", a term proposed by Cote et al. (1981) since it is independent of what chromosome is involved. Severe growth failure, the sole major physical abnormality in the "ring syndrome", was seen significantly more often among patients with ring of larger chromosomes than among patients with a smaller ring, indicating that the greater the chromosome involved in ring formation, the higher is the probability of severe growth failure. Larger ring chromosomes showed significantly more often instability than smaller rings, suggesting that there may be a correlation between ring instability and the size of the chromosome involved. Growth failure was present in significantly more patients with a "labile" ring than with a "stable" ring, indicating that a correlation may exist between ring instability and growth failure. It is suggested that the "ring syndrome" observed in many cases with ring autosome may result from end-to-end fusion of chromosome ends, an event not involving deletion in the genetic sense. It is also suggested that the "ring syndrome" is caused by a continuous generation of secondary aneuploid cells with increased mortality, i.e. structural ring instability which seems to be a function of the size of the chromosome involved. Thus, formation of a ring chromosome in certain cases might be regarded as a "structural mutation", i.e. an alteration in the structure of the genetic material per se, rather than a loss or gain of genetic dosages.