17p13.3 mikrodelesjon
Også kjent som: Distal 17p13.3 microdeletion syndrome
Engelsk navn: Distal 17p13.3 microdeletion syndrome
Engelske synonym: Distal del(17)(p13.3 ),Distal monosomy 17p13.3
Definisjon
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.
Fra Orphanet
ORPHA: 261257
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
