Article
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
BMC genomics - 17 Dec 2014
Geng Juan, Picker Jonathan, Zheng Zhaojing, Zhang Xiaoqing, Wang Jian, Hisama Fuki, Brown David W, Mullen Mary P, Harris David, Stoler Joan, Seman Ann, Miller David T, Fu Qihua, Roberts Amy E, Shen Yiping
Abstract excerpt
BACKGROUND: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be frequently associated with pathogenic copy number variants (CNVs). Currently, patients with CHD are routinely offered chromosomal microarray (CMA) testing, but the diagnostic yield of CMA on CHD patients has not been extensively evaluated based on a large patient cohort. In this study, we retrospectively...
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