Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
Violet Wallerstein, Leon Grant, Robert Wallerstein
Clinical Case Reports · 2022
doi:10.1002/ccr3.5956 (opens in a new tab)
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Abstract
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.
Abstract licence: CC BY-NC
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