title: [Assessment of chromosome and gene analysis for the diagnosis of the fragile X syndrome in Japan--estimated prevalence rate in various facilities].
abstract: We assessed the present status of chromosome and gene analyses utilized in Japan for the diagnosis of fragile X syndrome. Nursery facilities for the mentally handicapped and hospitals completed a mail-in-questionnaire including information on the number of patients diagnosed with the syndrome, the types of diagnostic analyses used, and the need for such analyses. Among 517 responders, ninety-five (18.4%, more frequently in hospitals) reportedly conducted chromosome or gene analyses, which established the diagnosis of fragile X syndrome in 56 patients, accounting for 2.2% of patients who underwent the analyses, and 0.13% of the patients included in this study. Each responder's experience with chromosome or gene analyses were related to his/her demand for them. Some facilities that had not utilized these analyses requested information on them as well as access to them. A larger number of specialists interested in diagnostic screening are essential to establish a diagnosis system of fragile X syndrome.
authors.affiliation: Department of Developmental Disorders, National Institute of Mental Health, National Center of Neurology and Psychiatry, Ichikawa, Chiba.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Horiguchi
authors.forename: Makiko
authors.initials: M
authors.lastname: Kaga
authors.forename: Masumi
authors.initials: M
authors.lastname: Inagaki
mesh_terms: D020732:Cytogenetic Analysis; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D005820:Genetic Testing; D006268:Health Facilities / Q000706:statistics & numerical data; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D015995:Prevalence; D011795:Surveys and Questionnaires