Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients

• Published in: Annales de génétique Vol. 44; no. 2; pp. 89 - 92
• Main Authors: Van Buggenhout, G.J.C.M., van Ravenswaaij-Arts, C., Mieloo, H., Syrrou, M., Hamel, B., Brunner, H., Fryns, J.P.
• Format: Journal Article
• Language: English
• Published: Paris Elsevier SAS 01-04-2001; Société d'édition de l'association d'enseignement médical des hôpitaux de Paris
• Subjects: Adolescent; Adult; Biological and medical sciences; Chromosome Aberrations; Complex syndromes; dysmorphology; Female; fluorescence in situ hybridisation; Humans; In Situ Hybridization, Fluorescence; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Karyotyping; Male; Medical genetics; Medical sciences; mental retardation; Middle Aged; Phenotype; submicroscopic subtelomeric rearrangement; Telomere - genetics; dysmorphology; mental retardation; fluorescence in situ hybridisation; submicroscopic subtelomeric rearrangement; Human; Multiple; Malformation; Fluorescence in situ hybridization; Cytogenetics; Intellectual deficiency; Exploration; Psychopathology; Molecular biology; Complex syndrome; Congenital disease; Mental retardation
• ISSN: 0003-3995
• DOI: 10.1016/S0003-3995(01)01044-9

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.