Abstract
Congenital heart disease (CHD) affects 1% of the population. The aetiology of CHD is complex and largely unknown, comprising both environmental and genetic components. Recent progress in molecular cytogenetics has led to the identification of rare genomic copy number variants (CNVs) in a significant proportion of CHD patients. These novel results imply new diagnostic possibilities and may aid in the identification of novel disease genes.
| Bidragets oversatte titel | [Chromosomal changes in congenital heart disease] |
|---|---|
| Originalsprog | Dansk |
| Tidsskrift | Ugeskrift for Laeger |
| Vol/bind | 173 |
| Udgave nummer | 3 |
| Sider (fra-til) | 194-6 |
| Antal sider | 3 |
| Status | Udgivet - 17 jan. 2011 |
Emneord
- Chromosome Aberrations
- Chromosome Deletion
- DNA Copy Number Variations
- Gene Dosage
- Genetic Predisposition to Disease
- Heart Defects, Congenital
- Humans