Pericentric X chromosome ascertained during antenatal diagnosis

Abstract
A pericentric inversion of an X chromosome [46, X, inv(X)(pllq28)] with no detectable deletions was ascertained by amniocentesis for prenatal diagnosis in a 42‐year‐old woman. No definitive counsel could be offered as such an inversion had not been previously reported. At 1 year, the infant appears normal. These data and the review of other recently published karyotypes suggest an absence of a somatic position effect in the human X chromosome and possible biases of ascertainment or possible alternative karyotypic interpretations of some previously reported inv(X) cases.