Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
CLINICAL CASE REPORTS（2022）
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 and suggest that there is no clear phenotype of UPD1.
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Key words
chromosome 1, developmental delay, genetic testing, isodisomy, uniparental disomy
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