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

Acácia Fernandes Lacerda de Carvalho; Paula Monique Leite Pitanga; Esmeralda Santos Alves; Diego Santana Chaves Geraldo Miguel; Laila Damasceno Espirito Santo; Ana Eliete Fernandes de Araújo; Ana Carolina Pereira Ornellas; Maria Betânia Pereira Toralles

doi:10.1055/s-0040-1721440

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

J Pediatr Genet. 2020 Dec 7;12(1):81-85. doi: 10.1055/s-0040-1721440. eCollection 2023 Mar.

Affiliations

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.
³ Department of Medical Genetics, Edgard Santos Teaching Hospital Academic, Federal University of Bahia, 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.

Keywords: chimerism; cytogenetics; disorders of sex development; hypochromic macules; trisomy 8 mosaic.

Publication types

Case Reports

Grants and funding

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.