高龄相关非整倍体和嵌合体的综合胚胎分析：短串联重复序列比较基因组杂交技术的应用
Comprehensive embryo analysis of advanced maternal age-related aneuploidies and mosaicism by short comparative genomic hybridization.
机构信息
Unitat de Biologia Cellular i Genètica Mèdica, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.
出版信息
Fertil Steril. 2011 Jan;95(1):413-6. doi: 10.1016/j.fertnstert.2010.07.1051. Epub 2010 Aug 24.
The short comparative genomic hybridization (short-CGH) method was used to perform a comprehensive cytogenetic study of isolated blastomeres from advanced maternal age embryos, discarded after fluorescent in situ hybridization (FISH) preimplantation genetic screening (PGS), detecting aneuploidies (38.5% of which corresponded to chromosomes not screened by 9-chromosome FISH), structural aberrations (31.8%), and mosaicism (77.3%). The short-CGH method was subsequently applied in one PGS, achieving a twin pregnancy.
采用短串联重复序列-比较基因组杂交（short-CGH）方法对高龄胚胎荧光原位杂交（FISH）检测前植入遗传学筛查（PGS）后丢弃的卵裂球进行全面细胞遗传学研究，发现非整倍体（其中 38.5%对应 9 号染色体 FISH 未筛查的染色体）、结构异常（31.8%）和嵌合体（77.3%）。随后在一次 PGS 中应用 short-CGH 方法，实现了双胞胎妊娠。
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