Korean J Obstet Gynecol.  2000 Feb;43(2):330-333.

A Case of Patau Syndrome Diagnosed in Early Pregnancy

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.

Keyword

Patau syndrome; Trisomy 13; amniocentesis; Patau

MeSH Terms

Amniocentesis
Autopsy
Cleft Lip
Congenital Abnormalities
Ear
Fetus
Foot
Heart
Heart Ventricles
Humans
Male
Mothers
Nuchal Translucency Measurement
Palate
Penis
Pregnancy*
Trisomy
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