J Pediatr Genet 2023; 12(01): 081-085
DOI: 10.1055/s-0040-1721440
Case Report

Chimerism 47,XY, + 8/46,XX: Follow-up for 11 Years

Acácia Fernandes Lacerda de Carvalho
1   Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Salvador, Bahia, Brazil
,
Paula Monique Leite Pitanga
1   Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Salvador, Bahia, Brazil
2   DNA Laboratory – Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil
,
Esmeralda Santos Alves
2   DNA Laboratory – Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil
3   Department of Medical Genetics, Edgard Santos Teaching Hospital Academic, Federal University of Bahia, Salvador, Bahia, Brazil
,
Diego Santana Chaves Geraldo Miguel
2   DNA Laboratory – Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil
,
Laila Damasceno Espirito Santo
1   Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Salvador, Bahia, Brazil
2   DNA Laboratory – Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil
,
Ana Eliete Fernandes de Araújo
1   Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Salvador, Bahia, Brazil
,
Ana Carolina Pereira Ornellas
2   DNA Laboratory – Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil
,
Maria Betânia Pereira Toralles
2   DNA Laboratory – Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil
3   Department of Medical Genetics, Edgard Santos Teaching Hospital Academic, Federal University of Bahia, Salvador, Bahia, Brazil
› Author Affiliations
Funding This work was supported by Edgard Santos Teaching Hospital Academic, Federal University of Bahia, Salvador, Bahia, Brazil and by DNA Laboratory – Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil.

Abstract

Approximately 30 sex chromosome discordant chimera cases have been reported to date. In particular, there are few reported cases of chimerism involving coexisting normal and abnormal lineages that each carries a distinct sex chromosome complement. To our knowledge, this is the first case of sexual chimerism with a simultaneous chromosomal aneuploidy involving chromosome 8. This report represents the data from 11 years of follow-up.

Ethical Approval

This study was approved by the Ethics Commission of the Universida de Federal da Bahia and informed written consent was obtained from participating subjects.


Authors' Contributions

A.F.L.C. contributed to the design of the work, genotype–phenotype correlation, and writing the manuscript. D.S.C.G.M. and M.B.P.T. performed the clinical evaluation of the patient and contributed for critical revision and to the final version of the manuscript. P.M.L.P., E.S.A., L.D.E.S., and A.C.P.O. contributed to the analysis and interpretation of the genomic data. A.E.F.A. contributed to the literature review. All authors discussed the results and provided critical feedback to the manuscript.




Publication History

Received: 17 August 2020

Accepted: 16 October 2020

Article published online:
07 December 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 
  • References

  • 1 Gartler SM, Waxman SH, Giblett E. An XX/XY human hermaphrodite resulting from double fertilization. Proc Natl Acad Sci U S A 1962; 48: 332-335
  • 2 Hwa HL, Ko TM, Huang CH, Chang LS. Prenatal diagnosis and genetic analysis of a fetus with 47,XX,+21/46,XX mosaicism and XX/XY chimerism. J Formos Med Assoc 2006; 105 (08) 659-663
  • 3 Malan V, Gesny R, Morichon-Delvallez N. et al. Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report. Hum Reprod 2007; 22 (04) 1037-1041
  • 4 Ramsay M, Pfaffenzeller W, Kotze E, Bhengu L, Essop F, de Ravel T. Chimerism in black southern African patients with true hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY. Ann N Y Acad Sci 2009; 1151: 68-76
  • 5 Freiberg AS, Blumberg B, Lawce H, Mann J. XX/XY chimerism encountered during prenatal diagnosis. Prenat Diagn 1988; 8 (06) 423-426
  • 6 Campbell S, Mavrides E, Prefumo F, Presti F, Carvalho JS. Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow. Ultrasound Obstet Gynecol 2001; 17 (04) 341-343
  • 7 Gorlin RJ, Cohen MM, Hennekam RC. Syndromes of the Head and Neck. 4th ed.. New York: Oxford University Press; 2001
  • 8 Hendson W, Levin SE, Govendrageloo K, Hunter V. Multiple cardiac abnormalities in a case of non-mosaic trisomy 8. Cardiovasc J S Afr 2003; 14 (03) 138-140
  • 9 Agrawal A, Agrawal R. Warkany syndrome: a rare case report. Case Rep Pediatr 2011; 2011: 437101
  • 10 Udayakumar AM, Al-Kindy A. Constitutional trisomy 8 mosaicism syndrome: case report and review. J Pediatr Genet 2013; 2 (04) 197-201
  • 11 Moorhead PS, Nowell PC, Mellmam WJ, Battips DM, Hungerford D. Chromosome preparations of leucocytes cultured from human peripheral blood. Exp Cell Res 1960; 613-616
  • 12 McGowan-Jordan J, Simons A, Schmid M. ISCN - An International System for Human Cytogenetic Nomenclature. Basel: Karger; 2016
  • 13 Novotný J, Lotz P, Müller S, Steinlein O. Identification of tetragametic human chimerism by routine DNA profiling. Int J Legal Med 2019; 133 (04) 989-992
  • 14 Malan V, Vekemans M, Turleau C. Chimera and other fertilization errors. Clin Genet 2006; 70 (05) 363-373
  • 15 Lee KF, Hsu CS, Kuo PL, Chen JL, Jiang YH, Liu IY. The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia. BMC Med Genet 2012; 13: 85
  • 16 Green AJ, Barton DE, Jenks P, Pearson J, Yates JR. Chimaerism shown by cytogenetics and DNA polymorphism analysis. J Med Genet 1994; 31 (10) 816-817
  • 17 Hadjiathanasiou CG, Brauner R, Lortat-Jacob S. et al. True hermaphroditism: genetic variants and clinical management. J Pediatr 1994; 125: 738-744
  • 18 Sawai T, Yoshimoto M, Kinoshita E. et al. Case of 46,XX/47,XY, +21 chimerism in a newborn infant with ambiguous genitalia. Am J Med Genet 1994; 49: 428-430
  • 19 Wiśniewska M, Mazurek M. Trisomy 8 mosaicism syndrome. J Appl Genet 2002; 43 (01) 115-118
  • 20 Duarte AC, Cunha E, Roth JM, Ferreira FL, Garcias GL, Martino-Roth MG. Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. Genet Mol Res 2004; 3 (03) 303-308
  • 21 Aruna N, Purushottam Rao M, Rajangam S. 46, XX/46, XY chimerism – a case report. J Anat Soc India 2006; 55 (01) 24026
  • 22 Wiley JE, Madigan M, Christie JD, Smith AW. Dispermic chimerism with two abnormal cell lines, 47,XY, +21 and 47,XX, +12. Am J Med Genet 2002; 107 (01) 64-66
  • 23 Winberg J, Gustavsson P, Lagerstedt-Robinson K. et al. Chimerism resulting from parthenogenetic activation and dispermic fertilization. Am J Med Genet A 2010; 152A (09) 2277-2286
  • 24 Giraldo G, Gómez AM, Mora L, Suarez-Obando F, Moreno O. Mosaic trisomy 8 detected by fibroblasts cultured of skin. Colomb Med (Cali) 2016; 47 (02) 100-104
  • 25 Shen Y, Ma HF, Luo D, Cai JF, Zou J, Guan JL. High incidence of gastrointestinal ulceration and cytogenetic aberration of trisomy 8 as typical features of Behcet's disease associated with Myelodysplastic syndrome: a series of 16 consecutive Chinese patients from the Shanghai Behcet's disease database and comparison with the literature. BioMed Res Int 2018; 2018: 8535091