Larsen Lars Allan
Wilhelm Johannsen Center for Funktionel Genomforskning, Institut for Cellulaer og Molekylaer Medicin, Københavns Universitet, 2200 København N, Denmark.
Ugeskr Laeger. 2011 Jan 17;173(3):194-6.
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.
先天性心脏病（CHD）影响着1%的人口。CHD的病因复杂，很大程度上尚不明确，包括环境和遗传因素。分子细胞遗传学的最新进展已使相当一部分CHD患者中罕见的基因组拷贝数变异（CNV）得以识别。这些新结果意味着新的诊断可能性，并可能有助于识别新的疾病基因。
