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Chimerism 47,XY, + 8/46,XX: Follow-up for 11 YearsFunding 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.
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.
Keywordschimerism - hypochromic macules - disorders of sex development - trisomy 8 mosaic - cytogenetics
This study was approved by the Ethics Commission of the Universida de Federal da Bahia and informed written consent was obtained from participating subjects.
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.
Received: 17 August 2020
Accepted: 16 October 2020
Article published online:
07 December 2020
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