Results 31 to 40 of about 210 (79)

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. Case report: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang   +8 more
doaj   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, EarlyView.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source

Prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis with a favorable outcome. Case Report: A 34-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Shun-Long Weng, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Meng-Shan Lee, Wayseen Wang   +7 more
doaj   +1 more source

Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features

Molecular Cytogenetics
Introduction A unique case of mosaic tetrasomy 9p was found using CNV-seq analysis of uncultured amniocytes, which was missed by karyotype analysis of cultured amniocytes.
Xingkun Yang, Yasi Zhou, Xiaodan Zhu, Tingting Xiao, Miaoling Ou, Linghua Zhang, Xiang Huang, Xiaoling Guo, Chao Li   +8 more
doaj   +1 more source

International Guideline on the Diagnosis, Treatment, and Monitoring of Long‐Chain Fatty Acid Oxidation Disorders (LC‐FAOD)

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Long‐chain fatty acid oxidation disorders (LC‐FAOD) are rare inherited defects of mitochondrial β‐oxidation that impair energy generation during fasting or metabolic stress. Clinical manifestations range from neonatal hypoketotic hypoglycemia and cardiomyopathy to hepatopathy, recurrent rhabdomyolysis, and chronic myopathy.
Sarah C. Grünert, Kaustuv Bhattacharya, Daniela Karall, Mirjam Langeveld, Fran Rohr, Gepke Visser, Jerry Vockley, Aileen Kenneson, Rani H. Singh, Ute Spiekerkoetter, International LC‐FAOD Guideline Workgroup, Georgianne L. Arnold, Kiera Batten, Terry G. J. Derks, Patrick Forny, Melanie B. Gillingham, Emma Glamuzina, Anita Inwood, Monika Jörg‐Streller, Erle Kristensen, Svetlana Lajic, Alexander Laemmle, Risto Lapatto, Elena Martín‐Hernández, Diego Martinelli, Mel McSweeney, Sonia Moreira, Margot F. Mulder, Anna Nordenström, Bryony Ryder, Marit Schwantje, Ida Vanessa D. Schwartz, Arthavan Selvanathan, Serap Sivri, Maren Thiel, Pilar Quijada‐Fraile, Johan L. K. Van Hove, Yilmaz Yildiz   +37 more
wiley   +1 more source

Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype

Molecular Cytogenetics, 2022
Background Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally ...
Jieping Song, Wei Jiang, Chengcheng Zhang, Bo Wang   +3 more
doaj   +1 more source

Fetal Compound Heterozygous Microdeletion at 7q31.1 Involving IMMP2L: Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
This first homozygous 7q31.1 microdeletion with exons 1, 2, and 3 of the IMMP2L gene involvement was diagnosed by CNV‐seq and mate‐pair sequencing, with breakpoints confirmed by Sanger sequencing. Despite a normal prenatal ultrasound, the uncertain long‐term prognosis complicates genetic counseling for this rare CNV.
Cui Chen, Qiling Song, Xiucheng Jiang, Tao Tang, Xuemei Zhang, Junbao Yang   +5 more
wiley   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, Volume 46, Issue 8, Page 1140-1150, July 2026.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Low-level mosaic trisomy 15 at amniocentesis without uniparental disomy 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the aneuploid cell line

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present low-level mosaic trisomy 15 without uniparental disomy (UPD) 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the ...
Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Yun-Yi Chen, Wayseen Wang   +7 more
doaj   +1 more source

Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Paternal uniparental disomy of chromosome 6 (UPD6pat) is associated with transient neonatal diabetes mellitus and multisystem developmental anomalies, but the mechanisms underlying its phenotypic variability remain unclear. This study integrates amniotic fluid cfRNA transcriptome analysis and molecular diagnostics, identifying 372 differentially ...
Jiahui Yu, Yan Zhang, Wenlong Shen, Jun Ying, Huanzheng Li, Xiaohua Tang, Xujun He   +6 more
wiley   +1 more source