Accès ouvert
2026
article
OpenAlex
Yueyun Lan, Xihe Deng, Sheng He, Jingsi Luo et autres
This study evaluated Preimplantation Genetic Testing for Structural Rearrangements (PGT‑SR) outcomes in carriers of complex chromosomal rearrangements (CCRs). Four CCR couples underwent PGT‑SR, and 20 karyotypically normal couples underwent Preimplantation Genetic Testing for Aneuploidy (PGT‑A) as controls. Embryo biopsies were analyzed by …
cn, us
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Accès ouvert
2025
article
OpenAlex
Xianglian Tang, Jiasun Su, Wei Li, Chaofan Zhou et autres
OBJECTIVES: To expand the clinical phenotype spectrum and improve the understanding of prenatal ultrasound manifestations and fetal prognosis of 16p13.11 deletion/duplication syndrome in the East Asian population. METHODS: We conducted a comprehensive ultrasound phenotypic analysis, pedigree analysis and long-term postnatal outcome follow-up …
cn
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Accès ouvert
2025
article
OpenAlex
Wei Li, Jiasun Su, Weiliang Lu, Xianglian Tang et autres
Single nucleotide polymorphism array (SNP-array) has been introduced for prenatal diagnosis. This study aims to evaluate the clinical utility of SNP-array in the prenatal central nervous system (CNS) malformations. A retrospective study was conducted on 437 prenatal cases involving CNS malformations and …
cn
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2025
article
OpenAlex
Yueyun Lan, Jinhui Shu, Sheng He, Jingsi Luo et autres
INTRODUCTION: The influence of X/Y-autosomal translocations on reproductive competence is determined by both the cytogenetic positioning of translocation breakpoints and the potential disruption of critical genomic regions essential for reproductive physiology, particularly gene-dense Y-chromosomal segments or X-chromosome loci associated with ovarian folliculogenesis. …
cn
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Accès ouvert
2025
preprint
OpenAlex
Xianglian Tang, Jiasun Su, Li Wei, Chaofan Zhou et autres
Abstract Objective: To understand phenotyping and prognosis for fetuses with 16p13.11 deletion/duplication in East Asian population. Design: Retrospective prenatal and patient cohort study in southern China. Setting: Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Population: All fetuses and patients …
cn
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Accès ouvert
2025
article
OpenAlex
Jiasun Su, Shujie Zhang, Wei Li, Fei Lin et autres
BACKGROUND: The 10q26 microdeletion syndrome (OMIM #609625) is a distinct genomic disorder characterized by a spectrum of clinical features including craniofacial anomalies, developmental delay (DD)/intellectual disability (ID), hypotonia, cardiovascular, and urogenital malformations. Despite the identification of critical regions within 10q26 linked to …
cn
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Accès ouvert
2025
other
OpenAlex
Xianglian Tang, Jiasun Su, Wei Li, Chaofan Zhou et autres
Abstract Objectives To expand the clinical phenotype spectrum and improve the understanding of prenatal ultrasound manifestations and fetal prognosis of 16p13.11 deletion/duplication syndrome in the East Asian population. Methods We conducted a comprehensive ultrasound phenotypic analysis, pedigree analysis and long-term postnatal outcome …
cn
(code pays fourni par la source)
Accès ouvert
2025
other
OpenAlex
Xianglian Tang, Jiasun Su, Wei Li, Chaofan Zhou et autres
Abstract Objectives To expand the clinical phenotype spectrum and improve the understanding of prenatal ultrasound manifestations and fetal prognosis of 16p13.11 deletion/duplication syndrome in the East Asian population. Methods We conducted a comprehensive ultrasound phenotypic analysis, pedigree analysis and long-term postnatal outcome …
cn
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Xianglian Tang, Jiasun Su, Wei Li, Chaofan Zhou et autres
Supplementary Material 1: Table S1. CMA, prenatal diagnosis indications and outcome follow-up of 60 fetuses with 16p13.11 deletion. Table S2. CMA, prenatal diagnosis indications and outcome follow-up of 141 fetuses with 16p13.11 duplication. Table S3. Ultrasound characteristics and outcome follow-up of 31 …
cn
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Xianglian Tang, Jiasun Su, Wei Li, Chaofan Zhou et autres
Supplementary Material 1: Table S1. CMA, prenatal diagnosis indications and outcome follow-up of 60 fetuses with 16p13.11 deletion. Table S2. CMA, prenatal diagnosis indications and outcome follow-up of 141 fetuses with 16p13.11 duplication. Table S3. Ultrasound characteristics and outcome follow-up of 31 …
cn
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Yueyun Lan, Hong Zhou, Sheng He, Jinhui Shu et autres
Objective To improve the accuracy of preimplantation genetic testing (PGT) in deletional α-thalassemia patients. Design Article. Patient(s) fifty-two deletional α-thalassemia couples. Intervention(s) Whole genome amplification (WGA), Next-generation sequencing (NGS) and PCR mutation loci detection. Main outcome measures WGA, Single nucleotide polymorphism (SNP) …
cn
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Accès ouvert
2023
article
OpenAlex
Peng Huang, Yueyun Lan, Hong Zhou, L. Lin et autres
BACKGROUND: Pre-implantation genetic testing for monogenic disorders (PGT-M) is an effective approach to reducing the incidence of birth defects by preventing the transmission of inherited diseases to offspring. However, there are still controversies regarding the detection methods and transplantation of embryos. This …
cn
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