Pseudotrisomy 13 Syndrome : A Case Report

Authors

  • Choladda Vejabhuti Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Tuenjai Chuangsuwanich Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Tumtip Sangruchi Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Chanin Limwongse Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Suchatree Botpibul Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Sujin Kanokpongsakdi Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University

Keywords:

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Abstract

We report on a male baby with microcephaly, holoprosencephaly of alobar type with sigle ventricle, cyclopia, proboscis, poorly developed testes, and clenched hands without polydactyly, suggestive of trisomy 13 syndrome. However, the cytogenetic study disclosed 46,XY. The case presented here very well represents pseudotrisomy 13 syndrome and signifies the value of cytogenetic study and genetic counseling.

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Published

01-07-2003

How to Cite

Vejabhuti, C. ., Chuangsuwanich, T. ., Sangruchi, T. ., Limwongse, C. ., Botpibul, S., & Kanokpongsakdi, S. (2003). Pseudotrisomy 13 Syndrome : A Case Report. Siriraj Medical Journal, 55(7), 409–413. Retrieved from https://he02.tci-thaijo.org/index.php/sirirajmedj/article/view/245430

Issue

Section

Case Report