Title: Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients
Authors: Van Buggenhout, Griet ×
van Ravenswaaij-Arts, C
Mieloo, H
Syrrou, M
Hamel, B
Brunner, H
Fryns, Jean-Pierre #
Issue Date: 2001
Series Title: Annales de génétique vol:44 issue:2 pages:89-92
Abstract: 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.
ISSN: 0003-3995
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics
Clinical Genetics Section (-)
× corresponding author
# (joint) last author

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