Adults with cri du chat
Molecular cytogenetic analysis has allowed a cytogenetic and phenotypic map of 5p to be defined, even if results from the studies reported up to now are not completely in agreement.Genotype-phenotype correlation studies showed a clinical and cytogenetic variability.Mental retardation is severe but general health good.Two of the 13 patients died and brain findings at autopsy are reported.The Cri du Chat syndrome (Cd CS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-).The incidence ranges from ,000 to ,000 live-born infants.The critical regions were recently refined by using array comparative genomic hybridisation.
With age, muscle hypotonia is replaced by hypertonia, and microcephaly becomes more evident. Atrophy of the brainstem mainly involving the pons, cerebellum, median cerebellar peduncles and cerebellar white matter has been revealed by magnetic nuclear resonance imaging .
Specific growth charts for Cd CS, based on a multicentre study carried out on 374 patients from the United States, Italy, the United Kingdom and Australia, confirmed the existence of prenatal and postnatal growth retardation [ percentile, respectively.