title: Fragile X checklist.
abstract: A 13-item checklist that combines physical and behavioral traits typical of fragile X [fra(X)] syndrome was evaluated prospectively in the screening of 107 males with mental retardation or severe learning disabilities. The checklist was completed before we obtained cytogenetic results. Fifteen males were fra(X)-positive and the manifestations that differentiated fra(X)-positive and fra(X)-negative patients included perseverative speech, large or prominent ears, large testicles, and tactile defensiveness. The combination of physical and behavioral traits is helpful in suggesting the diagnosis and identifying high-risk patients. A total score of 16 or higher had a significant yield of fra(X)-positive patients (greater than or equal to 45%).
authors.affiliation: Child Development Unit, Children's Hospital, Denver, CO 80218.
authors.forename: R J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: K
authors.initials: K
authors.lastname: Amiri
authors.forename: A
authors.initials: A
authors.lastname: Cronister
mesh_terms: D000367:Age Factors; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005149:Facial Expression; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000523:psychology; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D001523:Mental Disorders / Q000235:genetics; D011446:Prospective Studies; D012044:Regression Analysis; D013064:Speech Disorders / Q000235:genetics; D013737:Testis / Q000002:abnormalities