A Case of Patau Syndrome Diagnosed in Early Pregnancy.

Shin, Dong Yul; Kim, Kyung Tai; Hwang, Youn Yeung; Hong, Eun Kyung; Kim, Dong Hun

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Korean Journal of Obstetrics & Gynecology 2000;43(2):330-333.
Published online January 1, 2001.

A Case of Patau Syndrome Diagnosed in Early Pregnancy.

Dong Yul Shin, Kyung Tai Kim, Youn Yeung Hwang, Eun Kyung Hong, Dong Hun Kim

Abstract

Patau syndrome, or Trisomy 13 is one of the most common autosomal aberration associtated with multiple congenital abnormalities. We report a case with trisomy 13 mosacism which was found during an amniocentesis performed due to the age of the mother and abnormal nuchal translucency. The clinical features of fetus included cleft lip and palate, low set ears, polydactily, small ""micro"" penis, and Rocker-bottom feet. After termination of the pregnancy, the fetus was sent for an autopsy. The autopsy report was compatible with the gross findings and pulmonary hypoplasia, microophthalmia, hypoplasia of left ventricle of heart were found.

Key Words: Patau syndrome, Trisomy 13, amniocentesis, Patau

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