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Human Genetics

, Volume 97, Issue 3, pp 283–286 | Cite as

Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population

  • Rowena Sarah James
  • Patricia Ann Jacobs
Original investigation

Abstract

We have determined the parental origin in eight cases of constitutional trisomy 8. In all four cases of spontaneous abortion, the additional chromosome was maternal in origin and there was evidence for nullichiasmate meiosis I occurring in the genesis of this trisomy. In contrast, all four cases of liveborn trisomy 8 appear to have arisen by a mechanism consistent with the post-zygotic mitotic gain of the additional chromosome.

Keywords

Internal Medicine Metabolic Disease Molecular Study Spontaneous Abortion Parental Origin 
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 1996

Authors and Affiliations

  • Rowena Sarah James
    • 1
  • Patricia Ann Jacobs
    • 1
  1. 1.Wessex Regional Genetics LaboratorySalisbury District HospitalSalisburyUK

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