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Journal of Medical Genetics 1999;36:866-869; doi:10.1136/jmg.36.11.866
Copyright © 1999 by the BMJ Publishing Group Ltd.
J Med Genet 1999;36:866-869 ( November )

Letters to the editor

46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism

The first 150 words of the full text of this article appear below.

EDITOR---The finding of a mixture of both 46,XX and 46,XY cells in amniotic fluid culture has been frequently described. In the great majority of cases, the finding is followed by the birth of a normal male infant, leading to a consensus that the finding is the result of contamination with maternal cells in a normal male fetus. There are, however, several other possible explanations for a 46,XX/46,XY karyotype at amniocentesis. These include the presence of cells from an undiagnosed twin pregnancy, cross contamination in the laboratory, the presence of cells from a "vanished" male twin, and true fetal chimerism.1 Reassuringly, all previously reported cases where 46,XX/46,XY has been found at amniocentesis have resulted in the birth of a child with a normal genital phenotype.

We present a case where a 46,XX/46,XY karyotype was found on amniocentesis. This resulted in the birth of an infant with true chimerism and . . . [Full text of this article]


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This article has been cited by other articles:

  • Malan, V., Gesny, R., Morichon-Delvallez, N., Aubry, M.C., Benachi, A., Sanlaville, D., Turleau, C., Bonnefont, J.P., Fekete-Nihoul, C., Vekemans, M. (2007). Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report. Hum Reprod 22: 1037-1041 [Abstract] [Full Text]  

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