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http://dx.doi.org/10.3345/kjp.2009.52.10.1171

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

Cho, Ah Ra (Departments of Laboratory Medicine, College of Medicine, Chung Ang University)
Kim, Hye Ryoun (Departments of Laboratory Medicine, College of Medicine, Chung Ang University)
Lee, Mi Kyung (Departments of Laboratory Medicine, College of Medicine, Chung Ang University)
Yun, Sin Weon (Departments of Pediatrics, College of Medicine, Chung Ang University)
Lee, Jung Ju (Departments of Pediatrics, College of Medicine, Chung Ang University)
Publication Information
Clinical and Experimental Pediatrics / v.52, no.10, 2009 , pp. 1171-1174 More about this Journal
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;
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