Chromosomal microarray interpretation: what is a child neurologist to do?
The chromosomal microarray now plays a central role in the evaluation of children with neurologic developmental disorders, including global developmental delay, mental retardation, and increasingly also autistic spectrum disorders. As arrays become more sophisticated and their use more widespread, the child neurologist is likely to encounter abnormal chromosomal microarray results. The interpretation of such data is not always straightforward. This review article discusses in a practical manner the nature of chromosomal microarray results, describes an algorithm to help the child neurologist navigate a variety of testing scenarios, and proposes a standardized system for ranking array data based on levels of evidence of genotype-phenotype correlation.
Paciorkowski
Alex R
AR
Division of Pediatric and Developmental Neurology, Department of Neurology, Washington University School of Medicine, Campus Box 8111, 660 South Euclid Avenue, St. Louis, MO 63110-1093, USA. paciorkowskia@neuro.wustl.edu
Fang
Min
M
D002648:Child; D002875:Chromosomes; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D046228:Microarray Analysis / Q000295:instrumentation / Q000379:methods*; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics; D017410:Practice Guidelines as Topic