[Chromosomal changes in congenital heart disease].
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.
Wilhelm Johannsen Center for Funktionel Genomforskning, Institut for Cellulaer og Molekylaer Medicin, Københavns Universitet, 2200 København N, Denmark. larsal@sund.ku.dk
Lars Allan
LA
Larsen
D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D056915:DNA Copy Number Variations; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans