title: Prevalence of mental retardation related to fragile X syndrome and other chromosomal abnormalities in the Republic of San Marino.
abstract: The prevalence of mental retardation related to chromosomal abnormalities, including fragile X syndrome, was studied among 2735 males aged between five and 20 years living in the Republic of San Marino. Five cases of chromosomal abnormalities were found, including one case with fragile X syndrome, with partial epilepsy and a CT scan showing a large arachnoid cyst in the posterior fossa. The prevalence of mental retardation due to chromosomal abnormality was 1.83 per 1000, and that due to fragile X syndrome was 0.37 per 1000. Although these findings relate to only a small population, they are the first from a Mediterranean area.
authors.affiliation: Institute of Neurology, University of Bologna, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Cammarata
authors.forename: N
authors.initials: N
authors.lastname: Archidiacono
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: G
authors.initials: G
authors.lastname: Benassi
authors.forename: M
authors.initials: M
authors.lastname: Guarino
authors.forename: R
authors.initials: R
authors.lastname: D'Alessandro
mesh_terms: D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000150:complications / Q000453:epidemiology*; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D002895:Chromosomes, Human, Pair 5; D004314:Down Syndrome / Q000150:complications*; D005600:Fragile X Syndrome / Q000150:complications / Q000453:epidemiology*; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology* / Q000209:etiology; D008297:Male; D011859:Radiography; D012496:San Marino; D012729:Sex Chromosome Aberrations / Q000453:epidemiology*