Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

Table 4 Imbalances detected during diagnostic service (some patients carried more than one region of imbalance).

	All oligo arrays (service)	Oligo arrays following normal karyotype	Oligo arrays as first line test
Total imbalances	715	404	311
- deletion	374	223	151
- duplication	300	155	145
- triplication	27	18	9
- marker	1		1
- whole chromosome	13 (incl. 7 mosaic)	8 (incl. 3 mosaic)	5 (incl. 4 mosaic)

ISSN: 1755-8166