LEJEUNE SYNDROME - A MICRODELETION SYNDROME - CASE REPORT

Cri du chat syndrome (CdCS) was first described by Lejeune et al in 1963 as a genetic disorder caused by a variable deletion of the short arm of the chromosome 5. CdCS has an estimated incidence of between 1:15,000 and 1:50,000 live births. Among the mentally retarded population, the prevalence may be as high as 1:350. Approximately 90% of cases are the result of a de novo deletion, while the majority of the remaining cases are associated with translocations. We report a female newborn, which was thorough investigated. The fluorescence in situ hybridization (FISH) analysis, confirmed the deletion of the critical region for the Cri du chat syndrome (5p15.2).