Department of Clinical Genetics, Bayi Children's Hospital Affiliated to General Hospital of Beijing Military Region, Beijing, China.
Gene. 2012 Jul 10;502(2):154-8. doi: 10.1016/j.gene.2012.04.036. Epub 2012 Apr 24.
We describe a 5-year-old girl presented with autism and mental retardation features. Conventional karyotyping revealed a novel unidirectional translocation t(11;9)(p15;p23). HumanCytoSNP-12 Chip analysis identified a 13 Mb deletion from 9p24.3 to 9p23 and a 12.5Mb duplication from 9p23 to 9p21.2. The karyotype was described as 45,XX,psu dic(11; 9)(p15;p23), which was reported for the first time here. The deleted region, extending from 9p24.3 to 9p23, overlaps with the candidate region for monosomy 9p syndrome and contains a potential autism spectrum disorders (ASD) locus. The duplication region extending from 9p23 to 9p21.2 was previously identified as a critical region for the 9p duplication syndrome. These results suggested that the apparently balanced de novo translocations could produce cryptic deletions or duplications, and the precise mapping of the abnormal area may improve clinical management.
我们描述了一位 5 岁女孩，表现出自闭症和智力发育迟缓的特征。常规核型分析显示一种新的单向易位 t(11;9)(p15;p23)。HumanCytoSNP-12 芯片分析鉴定出 9p24.3 到 9p23 缺失 13Mb 和 9p23 到 9p21.2 重复 12.5Mb。核型描述为 45,XX,psu dic(11;9)(p15;p23)，这是首次报道。缺失区域从 9p24.3 延伸到 9p23，与单体 9p 综合征候选区域重叠，包含潜在的自闭症谱系障碍 (ASD) 基因座。从 9p23 延伸到 9p21.2 的重复区域先前被鉴定为 9p 重复综合征的关键区域。这些结果表明，明显平衡的新生易位可能导致隐匿性缺失或重复，异常区域的精确定位可能改善临床管理。
