Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.
Eur J Hum Genet. 2010 Oct;18(10):1114-20. doi: 10.1038/ejhg.2010.66. Epub 2010 May 12.
We evaluated 966 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 10 individuals with pathogenic copy number variants (CNVs) on the short arm of chromosome 8 (8p), representing approximately 1% of the patients analyzed. Two patients with 8p terminal deletion associated with interstitial inverted duplication (inv dup del(8p)) had different mechanisms leading to the formation of a dicentric intermediate during meiosis. Three probands carried an identical ∼5.0 Mb interstitial duplication of chromosome 8p23.1. Four possible hotspots within 8p were observed at nucleotide coordinates of ∼10.45, 24.32-24.82, 32.19-32.77, and 38.94-39.72 Mb involving the formation of recurrent genomic rearrangements. Other CNVs with deletion- or duplication-specific start or stop coordinates on the 8p provide useful information for exploring the basic mechanisms of complex structural rearrangements in the human genome.
我们通过高分辨率基于微阵列的比较基因组杂交技术对 966 名患有各种发育障碍的儿科患者进行了评估,发现 10 名患者 8 号染色体短臂(8p)上存在致病性拷贝数变异(CNV),占分析患者的约 1%。两名 8p 末端缺失伴中间倒位重复(inv dup del(8p))的患者存在不同的机制,导致减数分裂过程中形成双中心中间体。三个先证者携带 8p23.1 区相同的约 5.0 Mb 片段的重复。在核苷酸坐标约 10.45、24.32-24.82、32.19-32.77 和 38.94-39.72 Mb 处观察到 8p 内四个可能的热点,涉及反复基因组重排的形成。8p 上具有缺失或重复特异性起始或终止坐标的其他 CNV 为探索人类基因组中复杂结构重排的基本机制提供了有用信息。