RT Journal Article SR Electronic T1 High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 704 OP 709 DO 10.1136/jmg.2008.058776 VO 45 IS 11 A1 F Erdogan A1 L A Larsen A1 L Zhang A1 Z Tümer A1 N Tommerup A1 W Chen A1 J R Jacobsen A1 M Schubert A1 J Jurkatis A1 A Tzschach A1 H-H Ropers A1 R Ullmann YR 2008 UL http://jmg.bmj.com/content/45/11/704.abstract AB Background: Congenital heart disease (CHD) is the most common birth defect and affects nearly 1% of newborns. The aetiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal imbalances have been identified in many forms of syndromic CHD, but very little is known about the impact of DNA copy number changes in non-syndromic CHD.Method: A sub-megabase resolution array comparative genome hybridisation (CGH) screen was carried out on 105 patients with CHD as the sole abnormality at the time of diagnosis.Results: There were 18 chromosomal changes detected, which do not coincide with common DNA copy number variants, including one de novo deletion, two de novo duplications and eight familial copy number variations (one deletion and seven duplications).Conclusions: Our data show that submicroscopic deletions and duplications play an important role in the aetiology of this condition, either as direct causes or as genetic risk factors for CHD. These findings have immediate consequences for genetic counselling and should pave the way for the elucidation of the pathogenetic mechanisms underlying CHD.