This is a report on a 43-year-old woman in whom a mongoloid fetus could be diagnosed at the 26th week of pregnancy, following amniocentesis in the 23rd week. The interruption of pregnancy at first desired was later refused by the patient for reasons of conscience and the pregnancy carried to term. The lessons and conclusions to be drawn from this case are discussed.
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Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
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Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Prenatal Diagnosis Center, Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, Jiangsu 221009, China.
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Hong Kong Med J
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Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
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Article Synopsis
- - The study investigates the prenatal and postnatal features, along with genetic traits, of Lymphedema-Distichiasis syndrome (LDS) in two Chinese families with FOXC2 gene mutations.
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