Down syndrome

A new disease profile is added to our database – Down syndrome. In 1866, Down described clinical characteristics of the syndrome that now bears his name. In 1959, Lejeune and Jacobs et al. independently determined that Down syndrome is caused by trisomy 21. Down syndrome is by far the most common and best known chromosome disorder in humans. Mental retardation, dysmorphic facial features, and other distinctive phenotypic traits characterize the syndrome. Frequency is 1 in 700-800 live births. Approximately 100 children are born in Bulgaria with Down syndrome annually. The male-to-female ratio is increased (approximately 1.15:1) in newborns with Down syndrome. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in genetics – Dr. Dimitrina Konstantinova, PhD.