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

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

Acácia Fernandes Lacerda de Carvalho  1 , Paula Monique Leite Pitanga  1   2 , Esmeralda Santos Alves  2   3 , Diego Santana Chaves Geraldo Miguel  2 , Laila Damasceno Espirito Santo  1   2 , Ana Eliete Fernandes de Araújo  1 , Ana Carolina Pereira Ornellas  2 , Maria Betânia Pereira Toralles  2   3
Affiliations
Case Reports

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

Acácia Fernandes Lacerda de Carvalho et al. J Pediatr Genet. .

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.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
An 11-year-old child: prominent forehead, hypertelorism, deep set eyes, wide and anteverted nose, dysplastic ears, thick lips, short and wide neck, accessory nipple; pigmentary anomalies follow Blaschko's lines.
Fig. 2
Fig. 2
Karyotype GTG band; (A) 46,XX; (B) 47,XY + 8.
Fig. 3
Fig. 3
Fluorescence in situ hybridization using probes for chromosome 8 (red, green, blue), X (blue), and Y (red, blue) in metaphase. (A) Two chromosome 8 and sex chromosomes XX; (B) three chromosome 8 and sex chromosomes XY. Arrows indicate chromosomes 8.
See this image and copyright information in PMC

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