Forensic Sciences Research, Volume. 9, Issue 2, owae027(2024)

Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing

He Ren1,2、†, Zhiyong Liu3、†, Chong Chen4, Yan Shi4, Jiarong Zhang5, Ying Chen6, Li Jia4, Yacheng Liu4, and Jiangwei Yan5、*
Author Affiliations
  • 1Shanghai Key Lab of Forensic Medicine, Key Lab of Forensic Science, Ministry of Justice, Academy of Forensic Science, Shanghai, China
  • 2Beijing Police College, Beijing, China
  • 3Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China
  • 4Beijing Tongda Shoucheng Institute of Forensic Science, Beijing, China
  • 5School of Forensic Medicine, Shanxi Medical University, Jinzhong, China
  • 6Fangshan Branch of Beijing Public Security Bureau, Beijing, China
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    References(17)

    [1] E Engel. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet, 6, 137-143(1980).

    [2] JE Spence, RG Perciaccante, GM Greig et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet, 42, 217-226(1988).

    [3] C Cavalheiro, E Avila, AZ Gastaldo et al. Uniparental disomy of chromosome 21: a statistical approach and application in paternity tests. Forensic Sci Int Genet, 49(2020).

    [4] P Benn. Uniparental disomy: origin, frequency, and clinical significance. Prenat Diagn, 41, 564-572(2021).

    [5] K Yamazawa, T Ogata, AC Ferguson-Smith. Uniparental disomy and human disease: an overview. Am J Med Genet Part C Semin Med Genet, 154C, 329-334(2010).

    [6] T Eggermann. Prenatal detection of uniparental disomies (UPD): intended and incidental finding in the era of next generation genomics. Genes (Basel), 11, 1454(2020).

    [7] S-C Chien, C-P Chen, J-D Liou. Prenatal diagnosis and genetic counseling of uniparental disomy. Taiwan J Obstet Gynecol, 61, 210-215(2022).

    [8] P Nakka, S Pattillo Smith, AH O'Donnell-Luria et al. Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population. Am J Hum Genet, 105, 921-932(2019).

    [9] J Scuffins, J Keller-Ramey, L Dyer et al. Uniparental disomy in a population of 32,067 clinical exome trios. Genet Med, 23, 1101-1107(2021).

    [10] D del Gaudio, M Shinawi, C Astbury et al. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med, 22, 1133-1141(2020).

    [11] PR Gonzales, A Behlmann, K Kronquist et al. Laboratory quality assurance committee, interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med, 24, 255-261.

    [12] M Chen, J Jiang, C Li et al. Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case. Int J Leg Med, 133, 993-997(2019).

    [13] H Su, T Sun, M Chen et al. Multiple methods used for type detection of uniparental disomy in paternity testing. Int J Leg Med, 134, 885-893(2020).

    [14] A Doniec, W Łuczak, M Wróbel et al. Confirmation of paternity despite three genetic incompatibilities at chromosome 2. Genes (Basel), 12, 62(2021).

    [15] Q-L Liu, W-W Wu, H Zhao et al. Maternal uniparental disomy of chromosome 4 indicated by allele copy number of short tandem repeats. Forensic Sci Int Genet, 46(2020).

    [16] K Polonis, JL Lopes, H Cabral et al. Uniparental disomy of multiple chromosomes in two cases with a complex phenotype. Am J Med Genet A, 191, 1978-1983(2023).

    [17] T Liehr. Cytogenetic contribution to uniparental disomy (UPD). Mol Cytogenet, 3, 8(2010).

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    He Ren, Zhiyong Liu, Chong Chen, Yan Shi, Jiarong Zhang, Ying Chen, Li Jia, Yacheng Liu, Jiangwei Yan. Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing[J]. Forensic Sciences Research, 2024, 9(2): owae027

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    Paper Information

    Category: Research Articles

    Received: Nov. 18, 2023

    Accepted: Apr. 9, 2024

    Published Online: Sep. 22, 2025

    The Author Email: Jiangwei Yan (yanjw@sxmu.edu.cn)

    DOI:10.1093/fsr/owae027

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