Complete uniparental disomy of chromosome 1
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Abstract
Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay. We suggest that there is no clear phenotype of UPD1.
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- last seen: 2026-05-19T01:45:01.086888+00:00