Development of new postnatal diagnostic methods for chromosome disorders.
Chromosome imbalances are the leading cause of intellectual and developmental disabilities in the population. This paper reviews the current methods used to diagnose chromosome abnormalities in children including karyotyping, fluorescence in situ hybridization and microarray technologies. Advances in molecular cytogenetics, especially with the use of microarrays, have substantially increased the detection of chromosome abnormalities in children with disabilities and congenital anomalies above that achievable with conventional cytogenetic banding and light microscopy.
Signature Genomic Laboratories, Spokane, WA 99207, USA. Shaffer@signaturegenomics.com
Lisa G
LG
Shaffer
Bassem A
BA
Bejjani
D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007231:Infant, Newborn; D007621:Karyotyping / Q000379:methods; D046228:Microarray Analysis / Q000379:methods