Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience
| Autor: | C.D. van Karnebeek, Raoul C.M. Hennekam, C Koevoets, D F M C Smeets, Egbert J.W. Redeker, S. Sluijter, E. K. Bijlsma, Jan M.N. Hoovers |
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| Přispěvatelé: | Faculteit der Geneeskunde, Human Genetics, Paediatric Genetics |
| Rok vydání: | 2002 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Chromosomes Artificial Bacterial Adolescent Biology Cohort Studies Intellectual Disability Epidemiology Genetics medicine Humans Genetic Testing Prospective Studies Prospective cohort study Child Chromosomal aberrations and cancer Genetics (clinical) Metaphase Genetic testing Netherlands Chromosome Aberrations Chromosomale aberraties en kanker medicine.diagnostic_test Chromosomes Artificial P1 Bacteriophage Cytogenetics Infant Nucleic Acid Hybridization Telomere medicine.disease Chromosome Banding Developmental disorder Tandem Repeat Sequences Child Preschool Cohort Etiology Female Original Article Cohort study |
| Zdroj: | Journal of Medical Genetics, 39, 546-553. BMJ Publishing Group Journal of medical genetics, 39(8), 546-553. BMJ Publishing Group Journal of Medical Genetics, 39, 546-53 Journal of Medical Genetics, 39, 8, pp. 546-53 |
| ISSN: | 0022-2593 |
| Popis: | Item does not contain fulltext OBJECTIVE: The frequency of subtelomeric rearrangements in patients with unexplained mental retardation (MR) is uncertain, as most studies have been retrospective and case retrieval may have been biased towards cases more likely to have a chromosome anomaly. To ascertain the frequency of cytogenetic anomalies, including subtelomeric rearrangements, we prospectively screened a consecutive cohort of cases with unexplained MR in an academic tertiary centre. METHODS: Inclusion criteria were: age |
| Databáze: | OpenAIRE |
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