A Case of Monozygotic Twin with Dwn Syndrome |
Seong Heon Jeon, Choong Hyun Yoon, Young Wook Kim, Ki Bok Kim |
Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea |
Down 증후군을 동반한 일란성 쌍생아 1례 |
전성현, 윤충현, 김용욱, 김기복 |
광주기독병원 소아과 |
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Abstract |
Down syndrome is the most common autosomal chromosomal abnormality characterized by mental and growth retardation, and by various typical features including prominent epicanthal fold, oblique palpebral fissure, flat nasal bridge, short and broad hand, wide toe interspace, etc. The overall incidence has been shown to be 1:800 deliveries, increasing with advancing maternal age. However, twin cses are extremely rare, and thus far only 500 cases were reported worldwide.
We have recently observed 10-day-old male monozygotic twins with Down syndorme, born to a mother of 30 years of age with one normal child. Both have VSD confirmed by 2D-echocardiography, in addition to various typical features. Cytoenetic examination revealed that both have karyotypes of 47, XY,+21. This is the first report in Korea as far as the authors are aware of. |
Key Words:
Down syndrome, Monozygotic twin |
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