Clinical utility gene card for: 16p12.2 microdeletion.
Clinical utility gene card for: 16p12.2 microdeletion.
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临床实用基因卡为：16p12.2微缺失。
DOI：
10.1038/ejhg.2016.158
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发表时间：
2017
期刊：
影响因子：
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通讯作者：
Girirajan,Santhosh
中科院分区：
文献类型：
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作者：
Pizzo,Lucilla;Andrieux,Joris;Amor,DavidJ;Girirajan,Santhosh
16p12的。2微缺失的大小约为520 kbp，位于16号染色体的短臂。基因组重排由该区域侧翼的高度相同（> 99.5%）的片段重复（68 kbp）介导。尽管由于侧翼片段重复的高度复杂性，缺失断裂点难以定位，但这些断裂点通常位于hg19 chr16：g。(?（21950000）
The 16p12. 2 microdeletion is~ 520 kbp in size, located in the short arm of chromosome 16. The genomic rearrangement is mediated by highly identical (> 99.5%) segmental duplications (68 kbp) flanking this region. Although the deletion break points are difficult to map owing to the high complexity of the flanking segmental duplications, these are usually located at hg19 chr16: g.(? _ 21950000) _