| A Case of 18q-Deletion Syndrome with Hydronephrosis and Anhydrosis |
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Mun Hee Kim, Kee Hwan Yoo, Young Sook Hong, Soon Kyum Kim |
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Department of Pediatrics, Korea University Medical College, Seoul, Korea |
| 요로계 기형과 무한증을 동반한 18번 염색체 장완 결손 증후군 1례 |
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김문희, 유기환, 홍영숙, 김순겸 |
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고려대학교 의과대학 소아과학교실 |
Correspondence:
Kee Hwan Yoo, Email: 1
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| Abstract |
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The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region, spanning the interval from 18q22.2 to 18qter rather than a single critical region containing 18q. We experienced a case of 18q-syndrome in a male child. It was diagnosed by clinical and chromosomal study. He was a 15month-old infant who was admitted because of prolonged fever and vomiting. And he manifested a depressed midface, esotropia, anhydrosis, and developmental delay. Peripheral blood chromosome studies showed deleted chromosomal material at the distal part of the long arm of chromosome 18. He showed right hydronephroureterosis on IVP. So, he was diagnosed as 18q-syndrome with right hydronephroureterosis and anhydrosis. We report this syndrome with a review and related literature. |
| Key Words:
18q-syndrome, Anhydrosis, Hydronephroureterosis |
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