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Last Updated: 10/31/2025
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Found 393 publications
A case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells: Challenges and reflections in prenatal diagnosis
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 10, 2025
Results of screening and prenatal diagnosis for 71 fetuses with high risk for trisomy/monosomy 13 syndrome by non-invasive prenatal screening
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 24, 2025
Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study.
Journal: Fetal and pediatric pathology
Published: June 20, 2025
Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: January 08, 2025
Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype.
Journal: Frontiers in genetics
Published: December 17, 2024
Prenatal Clinical Presentation and Genetic Analysis of Partial Trisomy 12: A Case Report.
Journal: Cureus
Published: August 21, 2024
Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.
Journal: American journal of medical genetics. Part A
Published: August 01, 2024
Mosaic chromosomal alterations (mCAs) in individuals with monoclonal B-cell lymphocytosis (MBL).
Journal: Blood cancer journal
Published: July 04, 2024
Internalizing Psychiatric Symptoms in People with Mosaicism for Trisomy 21.
Journal: medRxiv : the preprint server for health sciences
Published: July 01, 2024
Re-Examination of PGT-A Detected Genetic Pathology in Compartments of Human Blastocysts: A Series of 23 Cases.
Journal: Journal of clinical medicine
Published: May 01, 2024
A multicenter analysis of individuals with a 47,XXY/46,XX karyotype.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 12, 2024
A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.
Journal: Frontiers in genetics
Published: October 31, 2023
Last Updated: 10/31/2025