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KMID : 0367419740150020065
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Journal of Korean Pediatric Society
1974 Volume.15 No. 2 p.65 ~ p.68
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Two Cases of 18 Trisomy Syndrome
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高昌俊/Coe, Chang Jun
李宣熹/朴瓊淑/尹德鎭/Lee, Sun Hee/Park, Kyung Sook/Yun, Duk Jin
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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 bad expired at 47 hours after birth due to respiratory failure. On autopsy interventricular septal defect, diaphragmatic hernia, and Meckel´s diverticulum. had been found.
Case 2: A six weeks old female infant admitted to Severance Hospital due to respiratory difficulty and periorai cyanosis. The mother had experienced several spontaneous abortions and family history revealed hermaphroditism in one uncle. Physical examination shows small eyes, micrognathia, low set ears, short sternum. grade I / N 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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