What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

被引：0
作者：
Thomy J. L. de Ravel
Koen Devriendt
Jean-Pierre Fryns
Joris R. Vermeesch
机构：
[1] University Hospitals Leuven,Centre for Human Genetics
来源：
European Journal of Pediatrics | 2007年 / 166卷
关键词：
Molecular karyotyping; Array CGH; Comparative genomic hybridisation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Molecular karyotyping by array comparative genomic hybridisation (array CGH) has doubled the detection rate of pathogenic chromosomal imbalances in patients. This has been possible by increasing the resolution level from the 5 Mb obtained using the conventional karyotype to as low as 100 kb by array technology. Moreover, the technology revealed that over 12% of the human genome includes sub-microscopic benign copy number variable regions. These new findings have implications in genetic counselling and patient management.
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页码：637 / 643
页数：6
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