Abstract
We describe a boy with a terminal deletion of the long arm of chromosome 18 and chronic arthritis involving both knees, one ankle and the temporomandibular joints. In contrast to the majority of patients with 18q- syndrome he has only slight mental disability. His serum IgA is normal.
MeSH terms
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Abnormalities, Multiple / genetics
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Adolescent
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Arthritis / complications
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Arthritis / diagnosis
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Arthritis / genetics*
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Chromosome Deletion*
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Chromosomes, Human, Pair 18*
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Chronic Disease
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Humans
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Intellectual Disability / complications
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics
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Male