| Two Cases of 18 Trisomy Syndrome |
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Chang Jun Coe, Sun Hee Lee, Kyung Sook Park, Duk Jin Yun |
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Department of Pediatrics Yonsei University College of Medicine Seoul, Korea |
| 18 Trisomy 2 例 報告 |
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高昌俊, 李宣熙, 朴瓊淑, 尹德鎭 |
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延世大學校醫科大學小兒科學敎室 |
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| Abstract |
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There are two cases concerning 18 trisomy syndrome, which have been confirmed by chromosome
culture at Severance Hospital, Yonsei University. This is the first case report of 18 trisomy syndrome in Korea.
Case 1： A 2. 3kg weight premature female infant have born at 36 weeks of gestation at Severane Hospital.
No specific history was obtainable except polyhydramnios in antenatal period. On physical
examination soon after birth shows small eyes, low set ears, micrognathia, short sternum, bilaterally
abducted index fingers flexed upon the third fingers with poor Moro reflex, Polydactylism have been
found by hand bone X-ray. The infant had expired at 47 hours after birth due to respiratory failure. On
autopsy interventricular septal defect, diaphragmatic hernia, and Meckefs diverticulum had been found.
Case 2: six weeks old female infant admitted to Severance Hospital due to respiratory difficulty
and perioral cyanosis. The mother had experienced several spontaneous abortions and family history rev-
ealed hermaphroditism in one uncle. Physical examination shows small eyes, micrognathia, low set ears,
tshort sternum, grade BI / V systolic murmur at apex and abducted index fingers flexed upon the third
fingers bilaterally. Chest X-ray shows pneumonia and eleven pairs of ribs.
Chromosme cultures of these two cases have been done and revealed the third chromosomes in E group.
Clinical pictures of trisomy E syndrome correlated well with the findings in these two cases.
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