Department of Pathology, Haartman Institute, University of Helsinki, Helsinki, Finland.
Am J Med Genet A. 2010 Jun;152A(6):1398-410. doi: 10.1002/ajmg.a.33402.
We report on the results of an array comparative genomic hybridization (array CGH) study of 150 karyotypically normal Finnish patients with idiopathic mental retardation and/or dysmorphic features and/or malformations. Using high-resolution microarray analysis, we sought to identify clinically relevant microdeletions and microduplications in these patients. The results were confirmed using other methods and compared with findings reported in recent publications and internet databases. Small aberrations of potential clinical significance were found in 28 (18.6%) of the 150 patients. Eight of the identified aberrations are known to cause syndromes, 4 affected the X chromosome in males, 4 were familial, and 13 have yet to be associated with a phenotype. This study demonstrates the benefits of array CGH in clinical diagnostics of developmental disorders. Further, our findings give evidence of new syndromes.
我们报告了一项针对 150 名芬兰常染色体核型正常的特发性智力低下和/或发育异常和/或畸形患者的 arrayCGH 研究结果。使用高分辨率微阵列分析,我们试图在这些患者中发现具有临床意义的微缺失和微重复。结果通过其他方法得到了证实,并与最近发表的出版物和互联网数据库中的发现进行了比较。在 150 名患者中,有 28 名(18.6%)发现了具有潜在临床意义的小异常。所鉴定的异常中有 8 种已知会导致综合征,4 种影响男性的 X 染色体,4 种是家族性的,13 种尚未与表型相关。这项研究证明了 arrayCGH 在发育障碍的临床诊断中的优势。此外,我们的研究结果还提供了新综合征的证据。