title: Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population.
abstract: The aim of this study is to establish the prevalence of fragile X syndrome among Estonian mentally retarded and also among the entire children's population born during the years 1984-2005. The study group consisted of 516 patients (448 boys and 68 girls) who were screened for full mutations in the FMR1 gene during the period 1997-2006. Fourteen boys (2.7%) were found with full mutations of the total mentally retarded individuals tested (3.1% of mentally retarded boys); the full mutation was not detected among girls. The live-birth prevalence of full mutation among boys was 1:13 947. The overall live-birth prevalence of fragile X syndrome was 1:27 115. It was found that the prevalence of fragile X syndrome among mentally retarded individuals in Estonia was the same as in previous studies, but the live-birth prevalence of fragile X syndrome among boys was significantly lower.
authors.affiliation: Department of Pediatrics, University of Tartu, Estonia. helenp@ut.ee
authors.forename: Helen
authors.initials: H
authors.lastname: Puusepp
authors.forename: Tiina
authors.initials: T
authors.lastname: Kahre
authors.forename: Hiljar
authors.initials: H
authors.lastname: Sibul
authors.forename: Viljo
authors.initials: V
authors.lastname: Soo
authors.forename: Ilona
authors.initials: I
authors.lastname: Lind
authors.forename: Elve
authors.initials: E
authors.lastname: Raukas
authors.forename: Katrin
authors.initials: K
authors.lastname: Ounap
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018672:Community Health Planning; D004252:DNA Mutational Analysis; D004957:Estonia / Q000453:epidemiology; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D001523:Mental Disorders / Q000150:complications* / Q000453:epidemiology*; D015995:Prevalence; D012189:Retrospective Studies; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human