Pseudotrisomy 13 syndrome : A case report.

Vejabhuti, Choladda; Chuangsuwanich, Tuenjai; Sangruchi, Tumtip; Limwongse, Chanin; Botpibul, Suchatree; Kanokpongsakdi, Sujin

Pseudotrisomy 13 syndrome : A case report.

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smj2003v55n7p409.pdf (609.11 KB)

Date

2003-07

Authors

Vejabhuti, Choladda

Chuangsuwanich, Tuenjai

Sangruchi, Tumtip

Limwongse, Chanin

Botpibul, Suchatree

Kanokpongsakdi, Sujin

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.

Keywords

Pseudotrisomy 13 syndrome

Citation

Vejabhuti Choladda, Chuangsuwanich Tuenjai, Sangruchi Tumtip, Limwongse Chanin, Botpibul Suchatree, Kanokpongsakdi Sujin. Pseudotrisomy 13 syndrome : A case report. Siriraj Medical Journal, 2003 Jul; 55(7): 409-413.

URI

https://imsear.searo.who.int/handle/123456789/137213

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Siriraj Medical Journal

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