J Med Genet 1999;36:156-158
( February )
Short report
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
C Dacou-Voutetakisa, A Sertedakia, M Maniatis-Christidisa, C Sarrib, G Karadimab, M B Petersenb, A Xaidaraa, M Kanarioua, P Nicolaidoua
a National and
Kapodistrian University of Athens School of Medicine, First Department
of Paediatrics, Aghia Sophia Children's Hospital, Goudi 115 27, Athens, Greece, b Department of Genetics, Institute of
Child Health, Aghia Sophia Children's Hospital, Athens, Greece
Correspondence to: Dr Dacou-Voutetakis.
Received 29 April 1997;
Revised version accepted for publication 3 July 1998
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.
Keywords:
ring chromosome 18;
chromosome 18 deletion;
IDDM;
hypothyroidism
© 1999 by J Med Genet
