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.
Dacou-Voutetakis
C
C
National and Kapodistrian University of Athens School of Medicine, First Department of Paediatrics, Aghia Sophia Children's Hospital, Greece.
Sertedaki
A
A
Maniatis-Christidis
M
M
Sarri
C
C
Karadima
G
G
Petersen
M B
MB
Xaidara
A
A
Kanariou
M
M
Nicolaidou
P
P
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*