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Applicability of a checklist for clinical screening of the fragile X syndrome
Author(s) -
Arvio M.,
Peippo M.,
Simola K. O. J.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02549.x
Subject(s) - fragile x syndrome , checklist , locus (genetics) , medicine , population , etiology , pediatrics , psychology , psychiatry , genetics , biology , gene , environmental health , cognitive psychology
In a population of 340000 in Southern Häme, Finland, there were 541 intellectually disabled adult males (> 16 years) known to the District Organisation for the Care of the Mentally Retarded in August 1993. Of these, 197 already had a confirmed etiological diagnosis, with 20 having the fragile X syndrome. The other 344 males were screened for the fragile X syndrome using a three‐step method: a clinical checklist used by a specialist nurse, a clinical examination by a physician who was very familiar with the fragile X syndrome, and the FRAXA‐locus gene test. Six new fragile X males were found. The minimum prevalence of the fragile X syndrome in the district was calculated to be 1:4400.