Advertisement

International Journal of Legal Medicine

, Volume 133, Issue 4, pp 993–997 | Cite as

Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case

  • Man Chen
  • Jian Jiang
  • Chen Li
  • He Ren
  • Wei Chen
  • Zhiyong Liu
  • Feng Cheng
  • Jing Zhao
  • Tong Chen
  • Chuguang Chen
  • Jiangwei YanEmail author
Case Report

Abstract

We present a duo paternity test case to assess the biological relationship between a woman and her female child. After analyzing 57 autosomal and 19 X-chromosomal short tandem repeat loci, mother–daughter exclusions were discovered at four loci, which were all located on chromosome 2. Further testing of whole-genome single nucleotide polymorphisms confirmed that the daughter had complete uniparental disomy (UPD) of chromosome 2. This study presents a cautionary case demonstrating that hasty decisions of parentage exclusion should not be made when genetic markers on the same chromosome do not conform to Mendel’s laws due to UPD.

Keywords

Parentage testing Uniparental isodisomy Chromosome 2 Short tandem repeat (STR) Whole-genome SNPs 

Notes

Funding information

This project was supported by the National Natural Science Foundation of China (no. 81330073) and CAS Key Program (KGFZD-135-16-021).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no competing interests.

Supplementary material

414_2018_1857_MOESM1_ESM.xlsx (9 kb)
Supplementary Table 1 (XLSX 9 kb)

References

  1. 1.
    Robinson WP (2000) Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays 22:452–459.  https://doi.org/10.1002/(sici)1521-1878(200005)22:5<452::aid-bies7>3.0.co;2-k CrossRefGoogle Scholar
  2. 2.
    Liehr T (2010) Cytogenetic contribution to uniparental disomy (UPD). Mol Cytogenet 3:8.  https://doi.org/10.1186/1755-8166-3-8 CrossRefGoogle Scholar
  3. 3.
    Wegener R, Weirich V, Dauber EM, Mayr WR (2006) Mother-child exclusion due to paternal uniparental disomy 6. Int J Legal Med 120:282–285.  https://doi.org/10.1007/s00414-006-0077-y CrossRefGoogle Scholar
  4. 4.
    Mansuet-Lupo A, Henke J, Henke L, Blank C, Ernsting A, Kozlowski P, Rouger P, van Huffel V (2009) A paternity case with three genetic incompatibilities between father and child due to maternal uniparental disomy 21 and a mutation at the Y chromosome. Forensic Sci Int Genet 3:141–143.  https://doi.org/10.1016/j.fsigen.2008.09.010 CrossRefGoogle Scholar
  5. 5.
    Heide E, Heide KG, Rodewald A (2000) Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity. Am J Med Genet 92:260–263CrossRefGoogle Scholar
  6. 6.
    Walsh PS, Metzger DA, Higushi R (1991) Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. BioTechniques 10(4):506–513Google Scholar
  7. 7.
    Bartuma H, Nord KH, Macchia G, Isaksson M, Nilsson J, Domanski HA, Mandahl N, Mertens F (2011) Gene expression and single nucleotide polymorphism array analyses of spindle cell lipomas and conventional lipomas with 13q14 deletion. Genes Chromosom Cancer 50:619–632.  https://doi.org/10.1002/gcc.20884 CrossRefGoogle Scholar
  8. 8.
    Shriver MD, Jin L, Chakraborty R, Boerwinkle E (1993) VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach. Genetics 134:983–993Google Scholar
  9. 9.
    Engel E (1980) A new genetic concept: the uniparental disomy and its potential effect, the isodisomy (author’s transl). J de genetique humaine 28:11–22Google Scholar
  10. 10.
    Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M, Katsumata N (2014) Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder. Endocr J 61:629–633CrossRefGoogle Scholar
  11. 11.
    Nicholls RD, Pai GS, Gottlieb W, Cantu ES (1992) Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann Neurol 32:512–518.  https://doi.org/10.1002/ana.410320406 CrossRefGoogle Scholar
  12. 12.
    Ou X, Liu C, Chen S, Yu J, Zhang Y, Liu S, Sun H (2013) Complete paternal uniparental isodisomy for chromosome 2 revealed in a parentage testing case. Transfusion 53:1266–1269.  https://doi.org/10.1111/j.1537-2995.2012.03863.x CrossRefGoogle Scholar
  13. 13.
    Palmer CG, Schwartz S, Hodes ME (1980) Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter. Clin Genet 17:418–422CrossRefGoogle Scholar
  14. 14.
    Baumer A, Wiedemann U, Hergersberg M, Schinzel A (2001) A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms. Hum Mutat 17:423–430.  https://doi.org/10.1002/humu.1118 CrossRefGoogle Scholar
  15. 15.
    Keller MC, McRae AF, McGaughran JM, Visscher PM, Martin NG, Montgomery GW (2009) Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan. Am J Med Genet A 149a:1823–1826.  https://doi.org/10.1002/ajmg.a.32973 CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of GenomicsChinese Academy of SciencesBeijingPeople’s Republic of China
  2. 2.University of Chinese Academy of SciencesBeijingPeople’s Republic of China
  3. 3.FuJian NanFang Judicial Appraisal CenterFuzhouPeople’s Republic of China
  4. 4.Beijing Microread Genetics Co., LtdBeijingPeople’s Republic of China
  5. 5.Beijing Police CollegeBeijingPeople’s Republic of China
  6. 6.Shanxi Medical UniversityTaiyuanPeople’s Republic of China

Personalised recommendations