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.

نویسندگان

  • C Dacou-Voutetakis
  • A Sertedaki
  • M Maniatis-Christidis
  • C Sarri
  • G Karadima
  • M B Petersen
  • A Xaidara
  • M Kanariou
  • P Nicolaidou
چکیده

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.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 36 2  شماره 

صفحات  -

تاریخ انتشار 1999