CHARGE Probe LPU021

CHARGE syndrome is an autosomal dominant disorder that occurs in 1/10,000 births. The acronym CHARGE summarizes six main clinical features: ocular Coloboma, Heart defects of any type, Atresia of the choaneae, mental Retardation, Genital and Ear anomalies. The CHD7 (chromodomain helicase DNA-binding) gene was identified as causative for the syndrome in 2/3 of patients with a clinical diagnosis of CHARGE.