What can we learn from old microdeletion syndromes using array-CGH screening?
| Autor: | Nathalie Marle, Muriel Holder-Espinasse, C. Ragon, P. Callier, Anne Dieux-Coeslier, Anne-Laure Mosca-Boidron, Philippe Jonveaux, Joris Andrieux, Catherine Vincent-Delorme, Muriel Payet, Brigitte Benzacken, Francine Mugneret, E Questiaux, Ghislaine Plessis, Eva Pipiras, C. Thauvin-Robinet, Alice Masurel-Paulet, Sonia Bouquillon, Andrée Delahaye, C Bonnet, Sylvie Manouvrier-Hanu, M Berri, Laurence Faivre |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Adolescent Genotype Chromosomes Human Pair 22 Karyotype Biology Bioinformatics Intellectual Disability Variable phenotype Intellectual disability Genetics medicine Humans Abnormalities Multiple Genetics (clinical) Comparative Genomic Hybridization medicine.disease Phenotype Child Preschool Chromosome Deletion Chromosomes Human Pair 7 Modifier Genes Comparative genomic hybridization |
| Zdroj: | Clinical Genetics. 82:41-47 |
| ISSN: | 0009-9163 |
| Popis: | Most microdeletion syndromes identified before the implementation of array-comparative genomic hybridization (array-CGH) were presumed to be well-defined clinical entities. However, the introduction of whole-genome screening led not only to the description of new syndromes but also to the recognition of a broader spectrum of features for well-known syndromes. Here, we report on 10 patients presenting with mental retardation associated with atypical features not suggestive of a known microdeletion and a normal standard karyotype. Array-CGH analyses revealed five microdeletions in the DiGeorge region, three microdeletions in the Williams-Beuren region and two microdeletions in the Smith-Magenis region. Reevaluation in these patients confirmed that the diagnosis remained difficult on clinical grounds and emphasized that well-known genomic disorders can have a phenotype that is heterogeneous and more variable than originally thought. The widespread use of array-CGH shows that such patients may be more readily achieved on the basis of genotype rather than phenotype. |
| Databáze: | OpenAIRE |
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