Journal of the Korean Pediatric Society 1986;29(2):225-231.
Published online February 28, 1986.
Two Cases of Patau Syndrome.
Eun Hee Cho, Byung Ho Lim, Ki Bok Kim
Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea
Patau 증후군 2례
조은희, 임병호, 김기복
광주기독병원 소아과
Abstract
Two cases of Patau syndrome which had been confirmed by cytogenetic analysis at Kwangju Christian Hospital was presented. Two babies were low-birth-weight infants born to mothers aged 30 and 27, respectively. No history of drugs, nor any exposure to radiation or other teratogenic agents were recalled by their mothers. No familial history of congenital anomalies were noted. They expired immediately after birth. On physical examination, the babies had multiple anomalies such as microcephaly, microphthalmia, cyclopia, low set ears, malformed nose, omphalocele and polydactyly. Chromosomal analysis of cultured peripheral lymphocytes, both were found to have 47 chromosomes with 13-trisomy, which characterizes the syndrome. Brief review of literature was presented.
Key Words: Patau Syndrome.


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