期刊
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
卷 53, 期 3, 页码 413-422出版社
SAGE PUBLICATIONS LTD
DOI: 10.1369/jhc.4A6436.2005
关键词
array CGH; molecular karyotyping; constitutional cytogenetics; prenatal diagnosis; postnatal diagnosis
类别
Array CGH (comparative genomic hybridization) enables the identification of chromosomal copy number changes. The availability of clone sets covering the human genome opens the possibility for the widespread use of array CGH for both research and diagnostic purposes. In this manuscript we report on the parameters that were critical for successful implementation of the technology, assess quality criteria, and discuss the potential benefits and pitfalls of the technology for improved pre- and postnatal constitutional genetic diagnosis. We propose to name the genome-wide array CGH molecular karyotyping, in analogy with conventional karyotyping that uses staining methods to visualize chromosomes.
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