학술논문
What can we learn from old microdeletion syndromes using array-CGH screening?
Document Type
Academic Journal
Author
Mosca-Boidron, A L; Bouquillon, S; Faivre, L; Callier, P; Andrieux, J; Marle, N; Bonnet, C; Vincent-Delorme, C; Berri, M; Plessis, G; Manouvrier-Hanu, S; Dieux-Coeslier, A; Thauvin-Robinet, C; Pipiras, E; Delahaye, A; Payet, M; Ragon, C; Masurel-Paulet, A; Questiaux, E; Benzacken, B; Jonveaux, P; Mugneret, F; Holder-Espinasse, M
Source
Clinical Genetics. Jul 01, 2012 82(1):41-47
Subject
Language
English
ISSN
0009-9163
Abstract
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.