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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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Hum ReprodHome page
V. Malan, R. Gesny, N. Morichon-Delvallez, M.C. Aubry, A. Benachi, D. Sanlaville, C. Turleau, J.P. Bonnefont, C. Fekete-Nihoul, and M. Vekemans
Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report
Hum. Reprod., April 1, 2007; 22(4): 1037 - 1041.
[Abstract] [Full Text] [PDF]




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