Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.
Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.
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DOI：
10.1002/ajmg.a.34043
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发表时间：
2011-07
影响因子：
2
通讯作者：
Mahoney, Maurice J.
中科院分区：
文献类型：
--
作者：
Li, Peining;Pomianowski, Pawel;DiMaio, Miriam S.;Florio, Joanne R.;Rossi, Michael R.;Xiang, Bixia;Xu, Fang;Yang, Hui;Geng, Qian;Xie, Jiansheng;Mahoney, Maurice J.
关键词：
由于不可预测的临床结果和复发风险，使用常规细胞遗传学方法检测染色体结构异常对产前遗传咨询提出了挑战。在3年的1,726例产前病例中，我们对11例检出各种结构染色体异常的病例进行了寡核苷酸阵列比较基因组杂交（aCGH）分析。在9例病例中，基因组畸变和基因内容物涉及3 p远端缺失、来自染色体4的标记染色体、来自5 p/7 q易位的衍生染色体5、从头远端6 q缺失、由8 p重复和8 q缺失组成的重组染色体8、来自8 p/9 q易位的额外衍生染色体9、描述了染色体12 q的嵌合体，其中添加了最初未知来源的物质，不平衡的13 q/15 q重排，以及远端18 q重复和缺失。一个致病性拷贝数的变化的情况下，注意到在一个从头11 q/14 q易位，在另一个与家族性插入21 q到19 q。结构异常的基因组表征有助于预测临床结果。这些结果证明了aCGH分析在具有细微或复杂染色体重排的产前病例中的价值。此外，我们的产前病例的临床指征的回顾性分析表明，约20%的人有异常的超声检查结果，并应被视为高风险妊娠的染色体和aCGH的组合分析。
Detection of chromosomal structural abnormalities using conventional cytogenetic methods poses a challenge for prenatal genetic counseling due to unpredictable clinical outcomes and risk of recurrence. Of the 1,726 prenatal cases in a 3-year period, we performed oligonucleotide array comparative genomic hybridization (aCGH) analysis on 11 cases detected with various structural chromosomal abnormalities. In nine cases, genomic aberrations and gene contents involving a 3p distal deletion, a marker chromosome from chromosome 4, a derivative chromosome 5 from a 5p/7q translocation, a de novo distal 6q deletion, a recombinant chromosome 8 comprised of an 8p duplication and an 8q deletion, an extra derivative chromosome 9 from an 8p/9q translocation, mosaicism for chromosome 12q with added material of initially unknown origin, an unbalanced 13q/15q rearrangement, and a distal 18q duplication and deletion were delineated. An absence of pathogenic copy number changes was noted in one case with a de novo 11q/14q translocation and in another with a familial insertion of 21q into a 19q. Genomic characterization of the structural abnormalities aided in the prediction of clinical outcomes. These results demonstrated the value of aCGH analysis in prenatal cases with subtle or complex chromosomal rearrangements. Furthermore, a retrospective analysis of clinical indications of our prenatal cases showed that approximately 20% of them had abnormal ultrasound findings and should be considered as high risk pregnancies for a combined chromosome and aCGH analysis.
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