Article Text

PDF
Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia
  1. K A Kaiser-Rogers1,
  2. D E McFadden2,
  3. C A Livasy4,
  4. J Dansereau5,
  5. R Jiang3,
  6. J F Knops6,
  7. L Lefebvre3,
  8. K W Rao1,
  9. W P Robinson3
  1. 1Department of Pediatrics, University of North Carolina, 5011 Thurston-Bowles, CB#7220, Chapel Hill, NC 27599-7220, USA
  2. 2Department of Pathology, University of British Columbia, 4480 Oak Street, Vancouver, BC, Canada V6H 3V4
  3. 3Department of Medical Genetics, University of British Columbia, 4480 Oak Street, Vancouver, BC, Canada V6H 3V4
  4. 4Department of Pathology, University of North Carolina, 5011 Thurston-Bowles, CB#7220, Chapel Hill, NC 27599-7220, USA
  5. 5Department of Obstetrics and Gynecology, University of British Columbia, Victoria General Hospital, Victoria, BC, Canada V8Z 6R5
  6. 6Genzyme Genetics, Inc., 2921 Rodeo Park Dr E, Santa Fe, NM 87505, USA
  1. Correspondence to:
 Wendy P Robinson
 950 W. 28th Ave, Rm 3096, Vancouver, BC, Canada V5Z 4H4; wprobins{at}interchange.ubc.ca

Abstract

Background: Placental mesenchymal dysplasia (PMD) is a distinct syndrome of unknown aetiology that is associated with significant fetal morbidity and mortality. Intrauterine growth restriction is common, yet, paradoxically, many of the associated fetuses/newborns have been diagnosed with Beckwith-Wiedemann syndrome (BWS).

Methods: We report two cases of PMD with high levels of androgenetic (complete paternal uniparental isodisomy) cells in the placenta and document, in one case, a likely androgenetic contribution to the fetus as well.

Results: The same haploid paternal complement found in the androgenetic cells was present in coexisting biparental cells, suggesting origin from a single fertilisation event.

Conclusions: Preferential allocation of the normal cells into the trophoblast explains the absence of trophoblast overgrowth, a key feature of this syndrome. Interestingly, the distribution of androgenetic cells appears to differ from that reported for artificially created androgenetic mouse chimeras. Androgenetic mosaicism for the first time provides an aetiology for PMD, and may be a novel mechanism for BWS and unexplained intrauterine growth restriction.

  • BWS, Beckwith-Wiedemann syndrome
  • CGH, comparative genomic hybridisation
  • CHM, complete hydatidiform mole
  • FISH, fluorescence in situ hybridisation
  • PMD, placental mesenchymal dysplasia
  • PHM, partial hydatidiform mole
  • UPiD, uniparental isodisomy
  • Beckwith-Wiedemann syndrome
  • hydatidiform mole
  • imprinting
  • mosaicism
  • placenta

Statistics from Altmetric.com

Footnotes

  • Published Online First 20 May 2005

  • Funding for this project was from the Canadian Institute for Health Research (grant MOP 15667 to WPR)

  • Competing interests: none declared

  • Consent was received for the publication of these details

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.