Trisomy 18 syndrome: a case report

Abstract

Background: Edwards Syndrome or trisomy 18, is a chromosomal aneuploidy characterized by the presence of an extra copy of chromosome 18. This syndrome is associated with a high mortality rate, with very few chances of survival beyond the week or year of age. However, there are cases that survive longer but with severe mental retardation, health and development and therefore very low quality life. In this paper we report a case of trisomy 18 of long survival with the purpose to provide information about aetiology, phenotype, survival and genetic counselling. Case Description: A 5-year-old female patient with one karyotype performed on 20 cells showing 47XX+18 in all metaphases. She presented with weight and height low for age, dysmorphic facies, severe psychomotor retardation and cognitive disability, inability to feed, lack of verbal language and sensorineural hearing loss. Conclusion: The knowledge of the clinical features and prognosis of patients with trisomy 18 is of great importance regarding the neonatal care and the decision of performing invasive procedures, such as heart surgery or cardiopulmonary resuscitation. The early diagnostic confirmation is important for making medical decisions.