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Prenatal findings of 2q13 Duplication and Deletion: Further Evidence for Lack of Phenotypic-Genotype Correlation
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  • Lu Li,
  • Xiuzhu Huang,
  • Mei Ye,
  • Jieping Chen,
  • Zhipeng Zeng,
  • Hui Guo,
  • Qiuyan Liao,
  • Wenlong Hu,
  • Donge Tang,
  • Yong Dai
Lu Li
Jinan University

Corresponding Author:[email protected]

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Xiuzhu Huang
Jinan University
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Mei Ye
Shenzhen People's Hospital
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Jieping Chen
Shenzhen People's Hospital
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Zhipeng Zeng
Shenzhen People's Hospital
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Hui Guo
Shenzhen People's Hospital
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Qiuyan Liao
Shenzhen People's Hospital
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Wenlong Hu
Shenzhen People's Hospital
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Donge Tang
Shenzhen People's Hospital
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Yong Dai
Southern University of Science and Technology
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Abstract

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.