Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
Article first published online: 21 FEB 2012
© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 83, Issue 1, pages 53–65, January 2013
How to Cite
Shoukier, M., Klein, N., Auber, B., Wickert, J., Schröder, J., Zoll, B., Burfeind, P., Bartels, I., Alsat, E., Lingen, M., Grzmil, P., Schulze, S., Keyser, J., Weise, D., Borchers, M., Hobbiebrunken, E., Röbl, M., Gärtner, J., Brockmann, K. and Zirn, B. (2013), Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?. Clinical Genetics, 83: 53–65. doi: 10.1111/j.1399-0004.2012.01850.x
- Issue published online: 17 DEC 2012
- Article first published online: 21 FEB 2012
- Accepted manuscript online: 27 JAN 2012 09:32AM EST
- Received 1 November 2011, revised and accepted for publication 23 January 2012
- array comparative genomic hybridization;
- copy number variants;
- developmental delay;
- intellectual disability;
- microdeletion and microduplication syndromes
Shoukier M, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B. Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated with clinically relevant copy number variants (CNVs) as well as delineating clinical criteria, which may help separating patients with pathogenic CNVs from those without pathogenic CNVs. We performed a retrospective review of clinical and array CGH data of 342 children with unexplained DD/ID. The phenotypic features of patients with clinically significant CNV were compared with those without pathogenic CNVs. Array CGH detected pathogenic CNVs in 13.2% of the patients. Congenital anomalies, especially heart defects, as well as primary microcephaly, short stature and failure to thrive were clearly more frequent in children with pathogenic CNVs compared with children with normal array CGH results. Thus, we assume that in patients with unexplained DD/ID, array CGH will more probably detect a significant CNV if any of these features is part of the patient's phenotype.