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  • 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

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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
  1. C Dacou-Voutetakisa,
  2. A Sertedakia,
  3. M Maniatis-Christidisa,
  4. C Sarrib,
  5. G Karadimab,
  6. M B Petersenb,
  7. A Xaidaraa,
  8. M Kanarioua,
  9. P Nicolaidoua
  1. aNational and Kapodistrian University of Athens School of Medicine, First Department of Paediatrics, Aghia Sophia Children’s Hospital, Goudi 115 27, Athens, Greece, bDepartment of Genetics, Institute of Child Health, Aghia Sophia Children’s Hospital, Athens, Greece
  1. Dr Dacou-Voutetakis.

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.

  • ring chromosome 18
  • chromosome 18 deletion
  • IDDM
  • hypothyroidism

https://doi.org/10.1136/jmg.36.2.156

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