Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients
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Authors
Van Buggenhout, G. J.
van Ravenswaaij-Arts, C.
Mieloo, H.
Syrrou, M.
Hamel, B.
Brunner, H.
Fryns, J. P.
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peer-reviewed
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Ann Genet
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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.
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Adolescent, Adult, *Chromosome Aberrations, Female, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability/*genetics/*physiopathology, Karyotyping, Male, Middle Aged, Phenotype, Telomere/genetics
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http://www.ncbi.nlm.nih.gov/pubmed/11522247
http://ac.els-cdn.com/S0003399501010449/1-s2.0-S0003399501010449-main.pdf?_tid=34848195338755ee6915b677dcff1dbf&acdnat=1333008412_a25ba874794f9749f91138763f91b5c5
http://ac.els-cdn.com/S0003399501010449/1-s2.0-S0003399501010449-main.pdf?_tid=34848195338755ee6915b677dcff1dbf&acdnat=1333008412_a25ba874794f9749f91138763f91b5c5
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en
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Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής