Ring Chromosome 10

Ring chromosome 10 (RC10) has been described in the literature in 18 live-born patients, five of them with breakpoints identified by chromosome microarray analysis (CMA). The breakpoints in RC10 are variable as is the clinical phenotype of the patients. However, some features are frequently found, such as microcephaly, strabismus, and congenital heart defects. Urogenital abnormalities are a common feature and all male patients showed cryptorchidism.