Article
Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.
Annales de genetique - 1 Jan 2000
Van Buggenhout G J, van Ravenswaaij-Arts C, Mieloo H, Syrrou M, Hamel B, Brunner H, Fryns J P
Abstract excerpt
In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 18 patients (16 males and 2 females) with dysmorphic features were selected to perform FISH studies by using subtelomeric probes to discover cryptic terminal deletions or duplications, undetectable with standard banding techniques. In the 13 investigated patients, no abnormalities were found with a selected...
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