Prenatal diagnosis of fetuses with Emanuel syndrome: Results of ultrasound examination and invasive genetic testing
Prenatal Diagnosis2022Vol. 42(4), pp. 469–477
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Xiulan Hao, Jianzhu Wu, Wenting Fu, Rui Zhang, Shilin Zhong, Yuqing Deng, Yunxiao Zhu, Yanchou Ye, Qun Fang
Abstract
In this series, in fetuses with a der(22), the derivative chromosome was consistently of maternal origin. In contrast, 46,t(11;22) balanced translocations were of maternal or paternal origin. The results contribute to the literature regarding the fetal phenotype of ES. Due to the absence of specific features distinguishing ES from other genetic syndromes, confirming the diagnosis through invasive genetic testing is necessary.
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