Transient Neonatal Diabetes mellitus in a Child with invdup(6)(q22q23) of Paternal Origin

An association between the rare condition of transient neonatal diabetes mellitus and either uniparental disomy for chromosome 6 or dup(6)(q22q23) raised the assumption that in this location on chromosome 6 there is an imprinted gene. We diagnosed diabetes that developed in a baby girl immediately after birth and resolved after 7 weeks of insulin treatment. Due to some minor dysmorphic features, we investigated her karyotype and identified inv-dup(6)(q22q23). The duplication spans at least 10 cM including the DNA sites DS270, S314, SI684 and S310. This case further supports the assumption that an imprinted gene exists on chromosome 6q22-23.