作者: Bjorn Bakker , Hilda van den Bos , Peter M. Lansdorp , Floris Foijer
关键词:
摘要: Aneuploidy, an aberrant number of chromosomes in a cell, is feature several syndromes associated with cognitive and developmental defects. In addition, aneuploidy considered hallmark cancer cells has been suggested to play role neurodegenerative disease. To better understand the relationship between disease, various methods measure chromosome numbers have developed, each their own advantages limitations. While some rely on dividing thus bias rates that population, other, more unbiased can only detect average cell cloaking cell-to-cell heterogeneity. Furthermore, techniques are prone technical artefacts, which result over- or underestimation rates. this review, we provide overview "traditional" karyotyping as well latest high throughput next generation sequencing protocols respective disadvantages.