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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Monozygotic twins discordant for trisomy 13

Journal of Perinatology volume 32, pages 306–308 (2012)Cite this article

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Abstract

Monozygotic twins with discordant karyotypes are rare. We report a case of monozygotic twins discordant for trisomy 13 by amniocyte karyotypes. Ultrasound revealed multiple congenital anomalies in Twin A (47,XY,+13), none in Twin B (46,XY), and monochorionic-diamniotic placentation. Zygosity testing performed both prenatally and after birth supported monozygosity. Twin A died in the neontal period. Twin B survived and had normal physical examination, but peripheral blood karyotype revealed 20% mosaicism for trisomy 13. Monochorionic-diamniontic placentation with vascular anastomoses was confirmed by pathological examination. In this paper, we discuss the various mechanisms by which monozygotic twins may have discordant karyotypes. The surviving twin, structurally and developmentally normal at 6 months of age, will be monitored for potential complications of uniparental disomy of chromosome 13 and trisomy 13 mosaicism.

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Authors and Affiliations

  1. Department of Pediatrics, University of Hawaii John A. Burns School of Medicine, Honolulu, HI, USA

    K Wong Ramsey, T P Slavin, V Balaraman & L H Seaver

  2. Kapiolani Medical Specialists, Honolulu, Honolulu, HI, USA

    T P Slavin, V Balaraman & L H Seaver

  3. Department of Obstetrics and Gynecology, University of Hawaii John A. Burns School of Medicine, Honolulu, HI, USA

    G Graham

  4. Fetal Diagnostic Institute of the Pacific, Honolulu, HI, USA

    G I Hirata

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  1. K Wong Ramsey
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  2. T P Slavin
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  4. G I Hirata
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  5. V Balaraman
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  6. L H Seaver
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Correspondence to K Wong Ramsey.

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Ramsey, K., Slavin, T., Graham, G. et al. Monozygotic twins discordant for trisomy 13. J Perinatol 32, 306–308 (2012). https://doi.org/10.1038/jp.2011.123

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