Korean J Obstet Gynecol.  2003 Aug;46(8):1634-1638.

A Case of Patau Syndrome Diagnosed in Antenatal Care

Affiliations
  • 1Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, Seoul, Korea.
  • 2Department of Obstetrics and Gynecology, College of Medicine, Soonchunhyang University, Bucheon, Korea.

Abstract

Patau syndrome is the least common and most severe viable autosomal trisomy. First identified as a cytogenic syndrome in 1960, Patau syndrome is caused by extracopy of chromosome 13. It is characterized by holoprosencephaly, cleft lip, cleft palate, cyclopia, polydactyly, congenital heart disease, and intrauterine growth retardation. Because of severity of congenital defects, extremely short survival time is expected. The rare survivors have profound mental retardation and seizures. So life sustaining procedures are generally not attempted. We report a case of Patau syndrome, which was diagnosed by prenatal ultrasonography at 25 weeks gestational age.

Keyword

Patau syndrome; Trisomy

MeSH Terms

Chromosomes, Human, Pair 13
Cleft Lip
Cleft Palate
Congenital Abnormalities
Fetal Growth Retardation
Gestational Age
Heart Defects, Congenital
Holoprosencephaly
Humans
Intellectual Disability
Polydactyly
Seizures
Survivors
Trisomy
Ultrasonography, Prenatal
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