Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay.

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.

Further Evidence That the CFTR Variant c.2620-6T>C Is Benign.

The c.2620-6T>C variant in the gene is a rare variant about which little is known. We present an asymptomatic adult who has this variant as well as the well described delta F508 pathogenic variant in transpresentation.