产前发现2q13重复和缺失:缺乏表型-基因型相关性的进一步证据

Journal of bioinformatics and systems biology : Open access Pub Date : 2021-10-01 DOI:10.22541/au.163308148.84107640/v1

L. Li, X. Huang, M. Ye, J. Chen, Z. Zeng, H. Guo, Q. Liao, W. Hu, D. Tang, Y. Dai

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摘要

2q13 CNV与各种疾病有关，但缺乏共识。通过CMA分析，我们发现四个胎儿在2q13的近端区域有缺失，一个有重复，一个在2q13；然而，它们的结果各不相同。

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Prenatal findings of 2q13 Duplication and Deletion: Further Evidence for Lack of Phenotypic-Genotype Correlation

2q13 CNV was associated with various diseases, with a lack of consensus. By CMA analysis, we found that four fetuses had deletion in the proximal region of 2q13, one had duplication, and one had duplication in the distal region of 2q13; however, they had variable outcomes.

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Journal of bioinformatics and systems biology : Open access

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