Korean Journal of Pediatrics 2009;52(10):1171-1174.
Published online October 15, 2009.
Partial trisomy of chromosome 18q11.2-q12: A case report
Ah Ra Cho1, Hye Ryoun Kim1, Mi Kyung Lee1, Sin Weon Yun2, Jung Ju Lee2
1Department of Laboratory Medicine, College of Mediciene, Chung Ang University, Seoul, Korea
2Department of Pediatrics, College of Mediciene, Chung Ang University, Seoul, Korea
18q11.2-q12 부분 삼염색체 1예
조아라1, 김혜련1, 이미경1, 윤신원2, 이정주2
1중앙대학교 의과대학 진단검사의학교실
2중앙대학교 의과대학 소아과학교실
Correspondence: 
Hye Ryoun Kim, Email: hyekim@cau.ac.kr
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.
Key Words: Edwards syndrome, Partial trisomy 18, Prognosis


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