title: [A study of the fragile X syndrome among the employees of the Spanish National Telephone Company].
abstract: Our aim was to study the incidence rate of the X-fragile syndrome among the male employees throughout Spain and that of the physically handicapped dependants of those workers at the Spanish National Telephone Company (TESA), this last goal being to offer genetic counselling to their families. The method used was to check the census of the Telephone Company Handicapped Assistance Association (ATAM), which embraces all handicapped dependents of TESA employees. 386 mentally backward (IQ under 70) males were found. A cytogenic study was offered to all those cases of unknown etiology. A total of 49 cases (12.7%) without any data to lead us into thinking of other etiological factors refused to take part. Molecular genetic studies were carried out on families with male members diagnosed as having X-fragile syndrome. The results were as follows: the total number of patients suffering with this syndrome was eleven. The incidence rates of X-fragile syndrome in the group studied was 14.3/386 (3.7% of mentally backward males). Molecular genetics was more sensitive than cytogenetics in diagnosing the state of mother and sister carriers.
authors.affiliation: Unidad de Genética Molecular Hospital Ramón y Cajal, Madrid.
authors.forename: S I
authors.initials: SI
authors.lastname: Pascual Pascual
authors.forename: J A
authors.initials: JA
authors.lastname: García Marcos
authors.forename: M A
authors.initials: MA
authors.lastname: Martín Lucas
mesh_terms: D000293:Adolescent; D015139:Blotting, Southern; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D004587:Electrophoresis, Agar Gel; D005260:Female; D005600:Fragile X Syndrome / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D015994:Incidence; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics; D008297:Male; D013030:Spain / Q000453:epidemiology; D013685:Telecommunications
chemical_list: D004247:DNA