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Xiong B, Tan K, Tan YQ, et al. Using SNP array to identify aneuploidy and segmental imbalance in translocation carriers. Genom Data. 2014;2:92-5doi: 10.1016/j.gdata.2014.05.007.
Xiong, B., Tan, K., Tan, Y. Q., Gong, F., Zhang, S. P., Lu, C. F., Luo, K. L., Lu, G. X., & Lin, G. (2014). Using SNP array to identify aneuploidy and segmental imbalance in translocation carriers. Genomics data, 292-5. https://doi.org/10.1016/j.gdata.2014.05.007
Xiong, B, et al. "Using SNP array to identify aneuploidy and segmental imbalance in translocation carriers." Genomics data vol. 2 (2014): 92-5. doi: https://doi.org/10.1016/j.gdata.2014.05.007
Xiong B, Tan K, Tan YQ, Gong F, Zhang SP, Lu CF, Luo KL, Lu GX, Lin G. Using SNP array to identify aneuploidy and segmental imbalance in translocation carriers. Genom Data. 2014 May 24;2:92-5. doi: 10.1016/j.gdata.2014.05.007. eCollection 2014 Dec. PMID: 26484079; PMCID: PMC4535754.
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Genom Data. 2014 May 24;2:92-5. doi: 10.1016/j.gdata.2014.05.007. eCollection 2014 Dec.

Using SNP array to identify aneuploidy and segmental imbalance in translocation carriers.

Genomics data

B Xiong, K Tan, Y Q Tan, F Gong, S P Zhang, C F Lu, K L Luo, G X Lu, G Lin

Affiliations

  1. National Engineering and Research Center of Human Stem Cell, Changsha 410078, China.
  2. National Engineering and Research Center of Human Stem Cell, Changsha 410078, China ; Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha 410078, China ; Key laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha 410078, China.
  3. Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha 410078, China ; Key laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha 410078, China ; Reproductive and Genetic Hospital of Citic-Xiangya, Changsha 410078, China.
  4. National Engineering and Research Center of Human Stem Cell, Changsha 410078, China ; Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha 410078, China ; Key laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha 410078, China ; Reproductive and Genetic Hospital of Citic-Xiangya, Changsha 410078, China.

PMID: 26484079 PMCID: PMC4535754 DOI: 10.1016/j.gdata.2014.05.007

Abstract

Translocation is one of the more common structural rearrangements of chromosomes, with a prevalence of 0.2%. The two most common types of chromosomal translocations, Robertsonian and reciprocal, usually result in no obvious phenotypic abnormalities when balanced. However, these are still associated with reproductive risks, such as infertility, spontaneous abortion and the delivery of babies with mental retardation or developmental delay. In recent years, array-based whole-genome amplification (WGA) technologies, including microarray comparative genomic hybridization (array CGH; aCGH) and single-nucleotide polymorphism (SNP) micro-arrays, have enabled the screening of every chromosome for whole-chromosome aneuploidy and segmental imbalance. These techniques have been shown to have clinical application for translocation carriers. Promising studies have indicated that array-based PGD of translocation carriers can lead to transfer pregnancy rates of 45-70% [2]. In addition to genetic testing techniques, the embryo biopsy stage (polar body, cleavage embryo or blastocyst) and the mode of embryo transfer (fresh or frozen embryos) can affect the outcome of PGD. It is now generally recommended that blastomere biopsy should be replaced by blastocyst biopsy to avoid a high mosaic rate and biopsy-related damage to cleavage-stage embryos, which might affect embryo development. However, more clinical data are required to confirm that the technique of SNP array-based PGD (SNP-PGD) combined with trophectoderm (TE) biopsy and frozen embryo transfer (FET) is superior to traditional FISH-PGD combined with Day 3 (D3) blastomere biopsy and fresh embryo transfer.

Keywords: Aneuploidy; Chromosomal translocation; Preimplantation genetic diagnosis; Single-nucleotide polymorphism array

References

  1. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Aug;27(4):387-92 - PubMed
  2. Fertil Steril. 2011 Apr;95(5):1606-12.e1-2 - PubMed
  3. Fertil Steril. 2011 Jul;96(1):e58-65 - PubMed

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