Autoimmune thyroiditis in 18q deletion syndrome.
Deletion of a segment of the long arm of chromosome 18 causes characteristic physical features and mental retardation. Autoimmune disorders have been described with this syndrome in a limited number of reports. We describe 2 cases of autoimmune hypothyroidism in children with 18q deletion syndrome.
Lomenick
Jefferson P
JP
Division of Endocrinology, University of Kentucky College of Medicine, Kentucky Clinic, Lexington, KY 40536, USA. jplome2@email.uky.edu
Smith
W Jackson
WJ
Rose
Susan R
SR
D000293:Adolescent; D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome; D013967:Thyroiditis, Autoimmune / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy