Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in aboy with a ring chromosome 18: additional evidence of autoimmunity or IDDMgene(s) on chromosome 18

Authors
Dacou-Voutetakis, C Sertedaki, A Maniatis-Christidis, M Sarri, C Karadima, G Petersen, MB Xaidara, A Kanariou, M Nicolaidou, P
Citation
C. Dacou-voutetakis et al., Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in aboy with a ring chromosome 18: additional evidence of autoimmunity or IDDMgene(s) on chromosome 18, J MED GENET, 36(2), 1999, pp. 156-158
Citations number
14
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
36
Issue
2
Year of publication
1999
Pages
156 - 158
Database
ISI
SICI code
0022-2593(199902)36:2<156:IDDM(A>2.0.ZU;2-1
Abstract
A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), a utoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This un ique association of defects could represent a chance association. Alternati vely, the clinical features could be the result of the chromosomal aberrati on. 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.