Chaofan Zhou

Complex chromosomal rearrangements induce embryonic chromosomal imbalance and significantly compromise reproductive outcomes

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 …

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16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations

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 …

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Assessing the clinical application value of SNP-array in fetal central nervous system malformations

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 …

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Assessing the Genetic Integrity of Embryos Carrying X/Y-Autosome-Balanced Translocations through SNP-Based PGT-SR

Yueyun Lan, Jinhui Shu, sheng tao 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. …

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16p13.11 deletion/duplication: prenatal diagnosis, postnatal outcome follow-up and phenotypic manifestations: a large cohort study

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 …

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Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 ‐Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype

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 …

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16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations

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)

16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations

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)

Additional file 1 of 16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations

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 …

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Additional file 1 of 16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations

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 …

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Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi

Chaofan Zhou, sheng tao he, Dun Liu, Yangjin Zuo et autres

BACKGROUND: Erythrocyte parameter analysis is the important means for diagnosis and treatment of hematological diseases, which are essential for screening of thalassemia in southern China combined with hemoglobin electrophoresis analysis. But little is known regarding the reference intervals (RIs) in healthy pediatrics …

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Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation

Chaofan Zhou, Jin Wang, Qinle Zhang, Qi Yang et autres

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