Lars Bolund

Genetic analysis of repeated, biparental, diploid, hydatidiform moles

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

  • Lone Sunde
  • Lars O. Vejerslev, J F Kennedy Instituttet, Danmark
  • Mie Poulsen Jensen, Institut for Human Genetik, AU, Danmark
  • Søren Pedersen, Danmark
  • J M Hertz, Danmark
  • L Bolund
A woman presented with five consecutive pregnancies displaying molar morphology. In the fifth pregnancy, a non-malformed, liveborn infant was delivered. Genetic analyses (RFLP analysis, cytogenetics, flow cytometry) were performed in pregnancies II-V. It was demonstrated that these pregnancies originated in separate conceptions, all conceptuses were diploid, and all had maternally as well as paternally derived genetic markers. By cytogenetic analysis, aberrant heteromorphisms were noted; no other abnormalities were observed in chromosome structure or in DNA sequence. Many different causes for the abnormal development can be envisaged, environmental as well as genetic. To conform to current ideas of molar pathogenesis, it is suggested that the present conceptuses might have arisen from imbalances in imprinted genomic regions. This could be a consequence of uniparental disomy in critical regions generated by somatic crossing over. Alternatively, it could be caused by a malfunction in the generation or maintenance of imprinting.
TidsskriftCancer Genetics and Cytogenetics
Sider (fra-til)16-22
Antal sider7
StatusUdgivet - 1993

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