Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement

Cerebellar hypoplasia, mild mental retardation, skeletal abnormalities, and ataxia were present in a 40 years old patient with a complex chromosome re arrangement (CCR), Chromosomes 2, 5, 16, and 17 were involved in the CCR. F or the definition of the eight breakpoints leading to the rearrangement FIS H with whole chromosomes paintings and specific telomeric probes was employ ed. Gene disruption, positional effect variegation, and sub-microscopic del etions are all possible causes for the abnormal phenotype observed in the p atient.