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.
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.
National and Kapodistrian University of Athens School of Medicine, First Department of Paediatrics, Aghia Sophia Children's Hospital, Greece.
C
C
Dacou-Voutetakis
A
A
Sertedaki
M
M
Maniatis-Christidis
C
C
Sarri
G
G
Karadima
M B
MB
Petersen
A
A
Xaidara
M
M
Kanariou
P
P
Nicolaidou
D001774:Blood Chemical Analysis; D002675:Child, Preschool; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D017353:Gene Deletion; D006650:Histocompatibility Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats; D012303:Ring Chromosomes; D013967:Thyroiditis, Autoimmune / Q000235:genetics*