RT Journal Article
SR Electronic
T1 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
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 156
OP 158
DO 10.1136/jmg.36.2.156
VO 36
IS 2
A1 Dacou-Voutetakis, C
A1 Sertedaki, A
A1 Maniatis-Christidis, M
A1 Sarri, C
A1 Karadima, G
A1 Petersen, M B
A1 Xaidara, A
A1 Kanariou, M
A1 Nicolaidou, P
YR 1999
UL http://jmg.bmj.com/content/36/2/156.abstract
AB 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.