17p13.3-YWHAE Copy Number Variation

Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.

A rare contiguous gene deletion syndrome of chromosome 17p13.3 characterized by classical lissencephaly, distinct facial dysmorphism, seizures and severe to profound intellectual disability. Additional congenital malformations can be part of the condition.

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.