A RARE CHROMOSOMAL DISORDER: CASE REPORT OF MONOSOMY 18P WITH LITERATURE REVIEW

Monosomy 18p is a rare genetic disorder caused by partial or complete deletion of the short arm of chromosome 18. Clinically, it is characterized by cognitive impairment associated with a dysmorphic syndrome. It can be associated with cerebral malformations, which determine the prognosis. The definitive diagnosis is based on cytogenetic analysis which identifies a partial or total absence of the short arm of chromosome 18p. There is currently no specific treatment. Management care is multidisciplinary and is mainly based on speech therapy sessions and early educational programs, in order to help improve the performance of affected children.