Detection of pericentric inversion of X chromosome in a male fetus.


Journal Article

Amniocentesis on a 32-year-old woman at risk for trisomy 21 by maternal serum triple screen showed a 46,Y,inv(X) (p22.1q24) karyotype in all cells analyzed. A blood sample was obtained from the mother for cytogenetic evaluation. Since she had the same inversion, DNA replication studies were performed to determine if the X inactivation pattern was random or not, since skewed inactivation of the inverted X might suggest that the breakpoints disrupted functional genes. DNA replication studies demonstrated that 68% of mother's cells with the inverted X were active, suggesting random X inactivation. The random X inactivation pattern suggested that the inversion is probably balanced and should not affect the fetus. A normal male was delivered at 40 weeks gestation.

Full Text

Cited Authors

  • Wenger, SL; Cutenese, C; Brancazio, LR

Published Date

  • December 1999

Published In

Volume / Issue

  • 87 / 4

Start / End Page

  • 339 - 341

PubMed ID

  • 10588841

Pubmed Central ID

  • 10588841

Electronic International Standard Serial Number (EISSN)

  • 1096-8628

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/(sici)1096-8628(19991203)87:4<339::aid-ajmg11>;2-u


  • eng