Summary
A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
François, J., Berger, R., Saraux, H.: Les aberrations chromosomiques en ophtalmologie. Vol. 1. Paris: Masson 1972
Schinzel, A., Schmid, W., Prader, A.: Turner phenotype: Mosaic 45,X/47,XY,+18. J. med. Genet. 11, 101–104 (1974)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Serville, F., Fontan, D., Laurent, C. et al. Mosaic 45,X/47,XY,+18. Hum Genet 36, 351–353 (1977). https://doi.org/10.1007/BF00446288
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00446288