X chromosome defects as an etiology of recurrent spontaneous abortion.


Journal Article (Review)

Recurrent spontaneous abortion is a significant problem in women's health, yet it remains a poorly understood phenomenon. Many cases of recurrent spontaneous abortion defy diagnosis, and we predict that a subset of these unexplained cases are caused by previously unknown, recessively inherited genetic causes. Here, we provide background on known genetic factors that contribute to spontaneous abortion and describe a novel X chromosome-based genetic mechanism that may be an important cause of recurrent spontaneous abortion. Recessively inherited defects on the human X chromosome would cause no symptoms in carrier females but would be lethal in utero to male conceptions that receive the defective X. Through investigation of the basic biology of the X chromosome, we propose that the female carriers of such traits can be identified through the molecular finding of skewed X chromosome inactivation. Furthermore, we have observed an association between skewed X chromosome inactivation and recurrent pregnancy loss, supporting the hypothesis that X chromosome defects may be an important, previously unknown cause of recurrent pregnancy loss.

Full Text

Cited Authors

  • Lanasa, MC; Hogge, WA

Published Date

  • January 2000

Published In

Volume / Issue

  • 18 / 1

Start / End Page

  • 97 - 103

PubMed ID

  • 11299525

Pubmed Central ID

  • 11299525

Electronic International Standard Serial Number (EISSN)

  • 1526-4564

International Standard Serial Number (ISSN)

  • 1526-8004

Digital Object Identifier (DOI)

  • 10.1055/s-2000-13480


  • eng