All issues > Volume 52(10); 2009

Case Report

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

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

Ah Ra AR Cho¹, Hye Ryoun HR Kim¹, Mi Kyung MK Lee¹, Sin Weon SW Yun², Jung Ju JJ Lee²

¹Department of Laboratory Medicine, College of Mediciene, Chung Ang University, Seoul, Korea
²Department of Pediatrics, College of Mediciene, Chung Ang University, Seoul, Korea

Correspondence Hye Ryoun HR 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.

Keywords :Edwards syndrome, Partial trisomy 18, Prognosis