Médecine moléculaire et génétique

Microduplication with Autoimmune Inflammatory Arthritis

Abstract

Yap TS, Adib N and Coman D

We describe a third case with clinical characterization due to 7p22.1 microduplication in an 8 year old female diagnosed concurrently with autoimmune Systemic Lupus Erythematosus. We propose that 7p22.1 microduplication can be associated with autoimmune arthritis as consequent copy number variations in autoimmune gene susceptibility loci within chromosome 7. Our case highlights the need for joint surveillance in children with microduplication syndromes and further contributes towards 7p22 duplication being a recognizable dysmorphic syndrome.