Département de Génétique, Laboratoire de Cytogénétique, Plateau Technique de Biologie, 2 rue Angelique Ducoudray, Dijon Cedex, France.
Clin Genet. 2012 Jul;82(1):41-7. doi: 10.1111/j.1399-0004.2011.01747.x. Epub 2011 Jul 26.
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.
大多数在实施比较基因组杂交芯片（array-CGH）之前鉴定的微缺失综合征被认为是明确的临床实体。然而，全基因组筛查的引入不仅导致了新综合征的描述，也导致了对知名综合征更广泛特征的认识。在这里，我们报告了 10 名患者，他们表现为智力迟钝，伴有不提示已知微缺失和正常标准核型的非典型特征。array-CGH 分析显示，有 5 名患者存在 DiGeorge 区微缺失，3 名患者存在 Williams-Beuren 区微缺失，2 名患者存在 Smith-Magenis 区微缺失。对这些患者的重新评估证实，基于临床标准，该诊断仍然难以确定，并强调了众所周知的基因组疾病可能具有比最初想象的更异质和更可变的表型。array-CGH 的广泛应用表明，这些患者可能更容易基于基因型而不是表型来实现。
