Pericentric X chromosome ascertained during antenatal diagnosis Article

Evans, MI, Simpson, JL, Larson, JW et al. (1980). Pericentric X chromosome ascertained during antenatal diagnosis . 18(1), 30-33. 10.1111/j.1399-0004.1980.tb01361.x

cited authors

  • Evans, MI; Simpson, JL; Larson, JW; Martin, AO; Sarto, GE; Schulman, JD

fiu authors

abstract

  • A pericentric inversion of an X chromosome [46,X,inv(X)(p11q28)] 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.

publication date

  • January 1, 1980

Digital Object Identifier (DOI)

start page

  • 30

end page

  • 33

volume

  • 18

issue

  • 1