期刊
CLINICS IN LABORATORY MEDICINE
卷 36, 期 2, 页码 261-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.cll.2016.01.017
关键词
Microarray; Cell-free DNA; Microdeletion; Microduplication; Copy number variant; Genetic counseling
Chromosomal microarray analysis has replaced conventional G-banded karyotype in prenatal diagnosis as the first-tier test for the cytogenetic detection of copy number imbalances in fetuses with/without major structural abnormalities. This article reviews the basic technology of microarray; the value and clinical significance of the detection of microdeletions, microduplications, and other copy number variants; as well as the importance of genetic counseling for prenatal diagnosis. It also discusses the current status of noninvasive screening for some of these microdeletion and microduplication syndromes.
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