期刊
REPRODUCTIVE BIOMEDICINE ONLINE
卷 23, 期 6, 页码 686-691出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.rbmo.2011.09.012
关键词
aneuploidy; array comparative genomic hybridisation; karyomapping; preimplantation genetic diagnosis; single nucelotide polymorphism; whole genome amplification
Bisignano et al. (2011) argue that, for preimplantation genetic diagnosis (PGD) of aneuploidy for all 24 chromosomes, microarray-based comparative genomic hybridization (array CGH) is superior to the use of single-nucleotide polymorphism (SNP) genotyping arrays. Published studies indicate that both technologies accurately detect aneuploidy of whole chromosomes or chromosome segments. However, given the extra theoretical resolution and parent-of-origin information provided by SNP-based approaches, these may be particularly suited to certain applications such as PGD of single-gene defects or translocation chromosome imbalance combined with comprehensive detection of aneuploidy. A consensus on how to validate aneuploidy testing and all other clinically relevant information resulting from genome-wide analysis is needed urgently. (C) 2011, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
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