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Case Report

Partial trisomy of chromosome 18q11.2-q12: A case report

Ah Ra Cho, Hye Ryoun Kim, Mi Kyung Lee, Sin Weon Yun, Jung Ju Lee

Clin Exp Pediatr. 2009;52(10):1171-1174. Published online October 15, 2009

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...

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