Detection of chromosomal aberrations by MACROGEN MacArray™ M-chip . (a) 15q11-15q13 deletion in DNA samples indicating Prader-Willi syndrome was detected by MACROGEN MacArray™ M-chip. The log 2-based test/reference intensity ratios of DNA clones located on chromosome 15 were below -0.25, the threshold indicating chromosomal deletion. (b) Another 5q15.2 deletion in the DNA from cri-du-chat syndrome was detected. (c) An Xp21.2 deletion indicating Duchenne muscular dystrophy was also detected in the same way. An 12q21 deletion reported previously for the same disease was not detected by our platform. (d) Detection of Edward's syndrome (trisomy 18). The aberration was clearly detected by our array system.
Park et al. BMC Medical Genetics 2010 11:102 doi:10.1186/1471-2350-11-102