Pericentric X chromosome ascertained during antenatal diagnosis

Clin Genet. 1980 Jul;18(1):30-3. doi: 10.1111/j.1399-0004.1980.tb01361.x.

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 defintive 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 types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amniocentesis
  • Chromosome Banding
  • Chromosome Inversion*
  • Chromosomes*
  • Female
  • Genetic Counseling
  • Humans
  • Pregnancy
  • Prenatal Diagnosis*