Partial duplication of chromosome 8p: Report of 5 patients and review of literature

The partial chromosome 8p duplication is a rare syndrome and is associated with a characteristic phenotype, including multiple congenital anomalies and mental retardation of various degrees. However, different outcomes depend on the size and location of the duplicated area. We present clinical and cytogenetic data of 5 Arab patients with de novo inversion duplication of 8p. This report provides additional cases to the growing literature. Keywords: Chromosome duplication, multiple congenital anomalies, mental retardation, phenotype Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 199-208