Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
| Autor: | Catherine Ozilou, Arnold Munnich, Jeanne Amiel, Catherine Turleau, Valérie Cormier-Daire, S. Romana, M-C de Blois, Michel Vekemans, P. Gosset, Laurence Colleaux, Stanislas Lyonnet, M. Le Merrer, Odile Raoul, Solange Heuertz, Marguerite Prieur, Marlène Rio, Florence Molinari |
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| Přispěvatelé: | Service de Génétique Médicale [CHU Necker], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Handicaps génétiques de l'enfant (Inserm U393), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5) |
| Rok vydání: | 2002 |
| Předmět: |
Male
Proband MESH: Genotype Chromosome Segregation Gene Duplication MESH: Child Gene duplication MESH: Syndrome MESH: In Situ Hybridization Fluorescence Child In Situ Hybridization Fluorescence Genetics (clinical) Gene Rearrangement Genetics 0303 health sciences MESH: Genetic Testing medicine.diagnostic_test MESH: Gene Duplication 030305 genetics & heredity Chromosome Mapping Syndrome Telomere MESH: Fluorescent Dyes Subtelomere Uniparental disomy Pedigree Female Original Article Chromosome Deletion medicine.medical_specialty Genotype MESH: Pedigree MESH: Gene Rearrangement MESH: Chromosome Deletion MESH: Chromosome Segregation Biology Sensitivity and Specificity MESH: Intellectual Disability 03 medical and health sciences Intellectual Disability MESH: Uniparental Disomy MESH: Polymorphism Genetic medicine Humans Genetic Testing Genotyping Fluorescent Dyes 030304 developmental biology Genetic testing Polymorphism Genetic MESH: Humans Cytogenetics Gene rearrangement Uniparental Disomy medicine.disease MESH: Male MESH: Sensitivity and Specificity [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics MESH: Microsatellite Repeats MESH: Telomere MESH: Chromosome Mapping MESH: Female Microsatellite Repeats |
| Zdroj: | Journal of Medical Genetics Journal of Medical Genetics, BMJ Publishing Group, 2002, 39 (4), pp.266-270. ⟨10.1136/jmg.39.4.266⟩ |
| ISSN: | 1468-6244 0022-2593 |
| Popis: | International audience; Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. Fourteen children were found to carry deletions or duplications of one or more chromosome telomeres and two children had uniparental disomy. This study clearly shows that fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies. We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation. |
| Databáze: | OpenAIRE |
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