1. Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients
- Author
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Maria Syrrou, C.M.A. van Ravenswaaij-Arts, Hanneke Mieloo, Han G. Brunner, B.C.J. Hamel, G Van Buggenhout, and J. P. Fryns
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Elucidation of hereditary disorders and their molecular diagnosis ,Population ,Mentally retarded ,Chromosomal rearrangement ,Biology ,Intellectual Disability ,Genetics ,medicine ,Humans ,education ,In Situ Hybridization, Fluorescence ,Telomere/genetics ,Chromosome Aberrations ,education.field_of_study ,medicine.diagnostic_test ,Cytogenetics ,Karyotype ,Middle Aged ,Telomere ,Subtelomere ,Phenotype ,Intellectual Disability/*genetics/*physiopathology ,Karyotyping ,Female ,Opheldering van erfelijke ziekten en hun moleculaire diagnostiek ,Fluorescence in situ hybridization ,Psychopathology - Abstract
Item does not contain fulltext 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 battery of subtelomeric probes. The results of cryptic chromosomal rearrangement studies are variable but the frequency of positive diagnostic findings seems to be lower than previously expected.
- Published
- 2001
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