18q11.2-q12 부분 삼염색체 1예Partial trisomy of chromosome 18q11.2-q12: A case report
- Authors
- 조아라; 이미경; 윤신원; 이정주; 김혜련
- Issue Date
- 2009
- Publisher
- 대한소아과학회
- Keywords
- Edwards syndrome; Partial trisomy 18; Prognosis
- Citation
- Korean Journal of Pediatrics, v.52, no.10, pp 1171 - 1174
- Pages
- 4
- Journal Title
- Korean Journal of Pediatrics
- Volume
- 52
- Number
- 10
- Start Page
- 1171
- End Page
- 1174
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/33321
- ISSN
- 1738-1061
2092-7258
- Abstract
- Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient.
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