Severe Growth Failure Associated with Atrophic Intestinal Mucosa and Ring Chromosome 15

Abstract

Ring chromosome 15 was detected in a boy with severe growth failure and no dysmorphic features who had previously been found to have an atrophic intestinal mucosa, a finding not observed in about 300 patients with ring autosome reported so far. Of the 137 metaphases examined, 8.1% had secondary aneuploidy produced by the structural and behavioural instability of the ring. Ring derivatives could also be seen in lymphocytes after only one cycle in the culture, indicating that such cells are also generated in vivo. We observed an increased cell death rate in fibroblast culture by Trypan Blue exclusion. These results suggest that there is a continuous in vivo generation of cells with increased mortality resulting in both growth failure and atrophic intestinal mucosa in the patient. The atrophic intestinal mucosa might be a manifestation of ring instability.