Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature.

ABSTRACT

Partial duplication of chromosome 6q has been recognized as a distinct dysmorphic syndrome with severe psychomotor and growth retardation, typical craniofacial features including microcephaly and microstomia, neck webbing, congenital contractures, and variable internal malformations. Most patients have died in the first year of life. We describe the clinical features and disease course in a boy with a duplication of 6q23.3-qter who lived up to the age of 10 years and discuss similarities with other patients.