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.
J Med Genet
; 36(2): 156-8, 1999 Feb.
Article
in En
| MEDLINE
| ID: mdl-10051018
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ring Chromosomes
/
Chromosomes, Human, Pair 18
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Thyroiditis, Autoimmune
/
Diabetes Mellitus, Type 1
Limits:
Child, preschool
/
Humans
/
Male
Language:
En
Journal:
J Med Genet
Year:
1999
Document type:
Article