The Aicardi Syndrome in a 47, XXY Male

Abstract

Hopkins, I. J., Humphrey, I., Keith, C. G., Susman, M., Webb, G. C. and Turner, E. K. (1979). Aust. Paediatr. J. , 278–280. the Aicardi syndrome in a 47, XXY male. The Aicardi syndrome is reported for the first time in a male child. His chromosomal analysis revealed a 47, XXY karyotype. This finding supports the suggestion that this condition is due to a newly mutated X‐chromosomal dominant gene. The existence of a 47, XXY chromosomal constitution in this male allows heterozygous expressions of the gene as in the female.