Letters to the editor
46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism
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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
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This article has been cited by other articles:
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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
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