Am J Perinatol 2010; 27(8): 599-602
DOI: 10.1055/s-0030-1249361
© Thieme Medical Publishers

Mixoploidy: Perinatal Diagnosis and Pregnancy Outcome

Ashwin R. Jadhav1 , Gary A. Dildy2 , Michael A. Belfort2 , Yves Lacassie3 , John C. Carey4
  • 1Division of Maternal Fetal Medicine, New York University Medical Center, New York, New York
  • 2Maternal Fetal Medicine at St. Marks Hospital, Salt Lake City, Utah
  • 3Division of Clinical Genetics, Louisiana State University Health Sciences Center, New Orleans, Louisiana
  • 4Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah
Further Information

Publication History

Publication Date:
16 March 2010 (online)

ABSTRACT

Mixoploidy is rare chromosomal disorder characterized by multiple cell lines, usually including triploidy, within tissues. Pregnancy outcome has generally been considered poor with congenital anomalies and developmental delay reported in postnatally diagnosed cases. We report on two cases of abnormal midtrimester ultrasound showing placental abnormalities. Karyotype assessment showed mixoploidy, and both cases had satisfactory pregnancy outcome.

REFERENCES

  • 1 Daniel A, Wu Z, Darmanian A, Collins F, Jackson J. Three different origins for apparent triploid/diploid mosaics.  Prenat Diagn. 2003;  23 529-534
  • 2 Golubovsky M D. Postzygotic diploidization of triploids as a source of unusual cases of mosaicism, chimerism and twinning.  Hum Reprod. 2003;  18 236-242
  • 3 Graham Jr J M, Hoehn H, Lin M S, Smith D W. Diploid-triploid mixoploidy: clinical and cytogenetic aspects.  Pediatrics. 1981;  68 23-28
  • 4 Järvelä I E, Salo M K, Santavuori P, Salonen R K. 46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty.  J Med Genet. 1993;  30 966-967
  • 5 Edwards M J, Park J P, Wurster-Hill D H, Graham Jr J M. Mixoploidy in humans: two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid-triploid mixoploidy.  Am J Med Genet. 1994;  52 324-330
  • 6 Lambert D M, Watters G, Andermann F, Der Kaloustian V M. Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy.  Am J Med Genet. 2001;  104 343-344

Dr. Ashwin R Jadhav

6311 Queens Blvd.

Apt. #C1, Woodside, NY 11366

Email: Ashwin.Jadhav@nyumc.org

Email: ashwin.r.jadhav@gmail.com

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