title: What can we learn from old microdeletion syndromes using array-CGH screening?
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.
authors: Département de Génétique, Laboratoire de Cytogénétique, Plateau Technique de Biologie, 2 rue Angelique Ducoudray, Dijon Cedex, France. anne-laure.mosca-boidron@chu-dijon.fr
authors: A L
authors: AL
authors: Mosca-Boidron
authors: S
authors: S
authors: Bouquillon
authors: L
authors: L
authors: Faivre
authors: P
authors: P
authors: Callier
authors: J
authors: J
authors: Andrieux
authors: N
authors: N
authors: Marle
authors: C
authors: C
authors: Bonnet
authors: C
authors: C
authors: Vincent-Delorme
authors: M
authors: M
authors: Berri
authors: G
authors: G
authors: Plessis
authors: S
authors: S
authors: Manouvrier-Hanu
authors: A
authors: A
authors: Dieux-Coeslier
authors: C
authors: C
authors: Thauvin-Robinet
authors: E
authors: E
authors: Pipiras
authors: A
authors: A
authors: Delahaye
authors: M
authors: M
authors: Payet
authors: C
authors: C
authors: Ragon
authors: A
authors: A
authors: Masurel-Paulet
authors: E
authors: E
authors: Questiaux
authors: B
authors: B
authors: Benzacken
authors: P
authors: P
authors: Jonveaux
authors: F
authors: F
authors: Mugneret
authors: M
authors: M
authors: Holder-Espinasse
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D059785:Karyotype; D010641:Phenotype