Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Am J Med Genet A. 2012 May;158A(5):1200-3. doi: 10.1002/ajmg.a.35300. Epub 2012 Apr 11.
The use of high-resolution microarray technology for investigation of patients with intellectual disability and/or congenital anomalies provided the unique possibility to identify new microdeletion/microduplication syndromes and discover the dosage sensitive genes, which are implicated in the manifestation of various genetic conditions. Microduplication of the 7p22.1 region, 1.7 Mb in size, has very recently been reported, representing the smallest interstitional 7p duplication, associated with specific facial features and speech delay. We report on a patient with an even smaller 7p22.1 de novo microduplication, 1 Mb in size, detected in a 14.5-year-old patient with mild intellectual disability and similar facial dysmorphism, including macrocephaly, ocular hypertelorism, low-set ears, and other features. There are 15 RefSeq genes included in this duplication. ACTB gene is a strong candidate gene for the alteration of craniofacial development. Further cases with similar duplications will contribute to the delineation of a potential new microduplication syndrome of 7p22.1.
使用高分辨率微阵列技术研究智力障碍和/或先天异常的患者，提供了识别新的微缺失/微重复综合征和发现剂量敏感基因的独特可能性，这些基因与各种遗传疾病的表现有关。最近报道了 7p22.1 区域大小为 1.7Mb 的微重复，这是最小的 7p 间质性重复，与特定的面部特征和言语延迟有关。我们报告了一例患者，其 7p22.1 处存在更小的 1Mb 新发微重复，该患者为 14.5 岁，患有轻度智力障碍和类似的面部畸形，包括大头畸形、眼球突出、低位耳和其他特征。该重复包含 15 个 RefSeq 基因。ACTB 基因是颅面发育改变的候选基因。进一步的类似病例的重复将有助于描绘 7p22.1 潜在的新微重复综合征。
