title: How to use… microarray comparative genomic hybridisation to investigate developmental disorders.
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.
authors.affiliation: West of Scotland Department of Clinical Genetics, Level 2A, Southern General Hospital, Glasgow, UK.
authors.forename: Mira
authors.initials: M
authors.lastname: Kharbanda
authors.affiliation: West of Scotland Department of Clinical Genetics, Level 2A, Southern General Hospital, Glasgow, UK.
authors.forename: John
authors.initials: J
authors.lastname: Tolmie
authors.affiliation: West of Scotland Department of Clinical Genetics, Level 2A, Southern General Hospital, Glasgow, UK.
authors.forename: Shelagh
authors.initials: S
authors.lastname: Joss
mesh_terms: D002648:Child; D055028:Comparative Genomic Hybridization / Q000379:methods*; D002658:Developmental Disabilities / Q000175:diagnosis*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*
keywords: Genetics; Neurodisability