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Journal of Obstetrics and Gynaecology Volume 31, 2011 - Issue 3
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Obstetric Case Reports

A case of trisomy 12 mosaicism presenting antenatally with fetal cardiomyopathy

R. ParasuramanWessex Fetal Medicine Unit, Princess Anne HospitalCorrespondence[email protected]
,
C. MercerAcademic Unit of Genetic Medicine, University of Southampton
,
L. BascombeJersey General Hospital, Jersey, UK
,
N. MaclachlanJersey General Hospital, Jersey, UK
,
J. GnanapragasamSouthampton General Hospital, Paediatric Cardiology, Southampton
&
D. T. HoweWessex Fetal Medicine Unit, Princess Anne Hospital
Pages 261-263 | Published online: 18 Mar 2011

References

  • BischoffFZ, Zenger-HainJ, MosesDet al. 1995. Mosaicism for trisomy 12: four cases with varying outcomes. Prenatal Diagnosis15:1017–1026.
  • BrosensJJ, OvertonC, LaverySA, ThorntonS. 1996. Trisomy 12 mosaicism diagnosed by amniocentesis. Acta Obstetricia et Gynecologica Scandinavica75:79–81.
  • DeLozier-BlanchetCD, RoederE, Denis-ArrueRet al. 2000. Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child. American Journal of Medical Genetics95:444–449.
  • EnglishCJ, GoodshipJA, JacksonAet al. 1994. Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development. Journal of Medical Genetics31:253–254.
  • GentilinB, GiardinoD, BoschettoCet al. 2006. Limited value of echography to predict true fetal mosaicism for trisomy 12. Prenatal Diagnosis26:1183–1189.
  • PedraSRFF, SmallhornJF, RyanGet al. 2002. Fetal cardiomyopathies; pathogenic mechanisms, hemodynamic findings, and clinical outcome. Circulation106:585–591.
  • RicherCL, BleaG, ChapdelaineA. 1977. Trisomy 12 mosaicism in an infertile man. Canadian Journal of Genetics and Cytology19:565–567.
  • Von KuskullH, RitvanenA, AmmalaPet al. 1989. Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample. Prenatal Diagnosis9:433–437.
  • WatsonJD, WardBE, PeakmanD, HenryG. 1988. Trisomy 16 and 12 confined chorionic mosaicism in liveborn infants with multiple anomalies. American Journal of Human Genetics43:A252.
  • YinonY, YagelS, HegeshJet al. 2007. Fetal cardiomyopathy – in utero evaluation and clinical significance. Prenatal Diagnosis27:23–28.

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