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How to use… microarray comparative genomic hybridisation to investigate developmental disorders
  1. Mira Kharbanda,
  2. John Tolmie,
  3. Shelagh Joss
  1. West of Scotland Department of Clinical Genetics, Level 2A, Southern General Hospital, Glasgow, UK
  1. Correspondence to Dr Mira Kharbanda, West of Scotland Department of Clinical Genetics, Level 2A, New Laboratory Medicine Building, Southern General Hospital, 1345 Govan Road, Glasgow G51 4TF, UK; mira.kharbanda{at}ggc.scot.nhs.uk

Abstract

Array-comparative genomic hybridisation (array-CGH) is a relatively new test that permits close scrutiny of chromosomal structure to detect genomic microdeletions and microduplications that are invisible in a conventional karyotype. Array-CGH is now the ‘first-line’ genetic test in the investigation of early developmental impairments and learning difficulties, especially if the clinical picture includes dysmorphism, abnormal growth, congenital anomalies, epilepsy and autism, alone or in combination. However, due to the array-CGH report's technical content and the uncertain clinical significance of many genomic findings, the results of array-CGH studies need careful interpretation. Array-CGH trebles the frequency of diagnosis compared with conventional karyotyping, but collaborative working, involving paediatricians, clinical geneticists and clinical scientists, is most important for interpretation of the results of new genomic investigations in everyday clinical practice.

  • Genetics
  • Neurodisability

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