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Human Genetics

, Volume 89, Issue 6, pp 647–652 | Cite as

Molecular studies of parental origin and mosaicism in 45,X conceptuses

  • Terry Hassold
  • Dorothy Pettay
  • Arthur Robinson
  • Irene Uchida
Original Investigations

Summary

The present report summarizes molecular studies of parental origin and sex chromosome mosaicism in forty-one 45,X conceptuses, consisting of 29 spontaneous abortions and 12 liveborn individuals with Turner syndrome. Our studies indicate that most 45,X conceptuses have a single, maternally derived X chromosome, regardless of whether the conceptus is liveborn or spontaneously aborted. In studies of mosaicism, our identification of X- and Y-chromosome mosaics among 45,X spontaneous abortions indicates that mosaicism does not ensure survival to term of 45,X fetuses. However, the incidence of sex chromosmome mosaicism is substantially higher in liveborn than in aborted 45,X conceptuses, indicating that the presence of a second cell line increases the likelihood of survival to term.

Keywords

Internal Medicine Metabolic Disease Molecular Study Present Report Spontaneous Abortion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • Terry Hassold
    • 1
  • Dorothy Pettay
    • 1
  • Arthur Robinson
    • 2
  • Irene Uchida
    • 3
  1. 1.Division of Medical Genetics, Department of PediatricsEmory University School of MedicineAtlantaUSA
  2. 2.National Jewish Center for Immunology and Respiratory MedicineDenverUSA
  3. 3.Department of PediatricsMcMaster UniversityHamiltonCanada

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