Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18

J Med Genet. 1999 Feb;36(2):156-8.

Abstract

A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This unique association of defects could represent a chance association. Alternatively, the clinical features could be the result of the chromosomal aberration. If so, one could speculate that a gene or genes on chromosome 18 might act as a suppressor or activator of the autoimmune process by itself or in concert with other IDDM loci.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Chemical Analysis
  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, Pair 18 / genetics*
  • Diabetes Mellitus, Type 1 / genetics*
  • Gene Deletion
  • Histocompatibility Testing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Male
  • Microsatellite Repeats
  • Ring Chromosomes*
  • Thyroiditis, Autoimmune / genetics*