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.

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Bibliographic Details
Published in:The Journal of pediatrics 2005-10, Vol.147 (4), p.541-543
Main Authors: Lomenick, Jefferson P., Smith, W. Jackson, Rose, Susan R.
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Child, Preschool
Chromosome aberrations
Chromosome Deletion
Chromosomes, Human, Pair 18 - genetics
Endocrinopathies
General aspects
Humans
Male
Medical genetics
Medical sciences
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Syndrome
Thyroid. Thyroid axis (diseases)
Thyroiditis, Autoimmune - diagnosis
Thyroiditis, Autoimmune - genetics
Thyroiditis, Autoimmune - therapy
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Description
Summary: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2005.04.064