Phenotypic checklist to screen for fragile X syndrome in people with mental retardation.
The development of a phenotypic checklist for identifying people with fragile X syndrome is described. The checklist was designed to identify people with developmental disabilities of unknown causes for molecular genetic testing for fragile X syndrome. The list consists of 28 items (7 on physical characteristics and 21 on behavioral features). Validation data were collected for 110 boys and men with fragile X syndrome and for 79 members of a control group, matched for CA, level of cognitive development, and social (mal)adaptation. On the basis of checklist results, those boys who are likely to be diagnosed as having fragile X syndrome can be identified. The screening list can be considered to be a consistent, reliable, and valid instrument.
Maes
B
B
Centre of Human Genetics, Leuven, Belgium.
Fryns
J P
JP
Ghesquière
P
P
Borghgraef
M
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000145:classification / Q000209:etiology; D002658:Developmental Disabilities / Q000145:classification* / Q000209:etiology; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D010641:Phenotype; D012680:Sensitivity and Specificity; D011795:Surveys and Questionnaires