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

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.

Keywords

• chromosome 1
• developmental delay
• genetic testing
• isodisomy
• uniparental disomy