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.
case_report · Level V
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- Record sourced from PubMed, PMID 10051018.
- Also identified by PMC identifier 1734302.
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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.
Medical subject headings
- Chromosomes, Human, Pair 18
- Diabetes Mellitus, Type 1
- Ring Chromosomes
- Thyroiditis, Autoimmune