Chromosome microarray in Australia: a guide for paediatricians.
Chromosomal microarray or molecular karyotype has become the first-line genetic investigation for children with intellectual disability, autistic spectrum disorder or multiple congenital anomalies. Chromosomal microarray increases the detection rate of pathogenic chromosome imbalances including submicroscopic deletions or duplications in patients with undiagnosed intellectual disability to approximately 15% compared with 3% with conventional cytogenetics. This review article summarises the diagnostic technique and highlights the advantages and limitations of chromosomal microarray. Our aim is to assist clinicians in providing pretest counselling and with interpretation of the result.
Department of Medical Genetics, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.
Elizabeth E
EE
Palmer
Greg B
GB
Peters
David
D
Mowat
D001315:Australia; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002869:Chromosome Aberrations; D003582:Cytogenetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D059785:Karyotype; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D010372:Pediatrics