Resumo

VILLALBA HERRERA, Ericka Wendie  e  ROCA CRUZ, Carla Atina. Sindrome de Edwards. Rev. Act. Clin. Med [online]. 2014, vol.45, pp. 2384-2388. ISSN 2304-3768.

ABSTRACT Edwards Syndrome is a chromosomal aneuploidy characterized by the presence of an extra copy of chromosome 18 and may be complete (trisomy), partial (translocation), or mosaicism when present in fetal cells, present in low percentage of population. It is characterized by intrauterine and postnatal growth, poor muscle mass at birth, microcephaly with dolichocephaly, micrognathia, high arched palate, pectus carinatum, small palpebral fissures, low-set ears, trisomic hands, syndactyly, hirsutism on the back and front club foot and mental retardation. The error in the number of chromosomes occurs in the first or second meiosis resulting gamete with 24 chromosomes instead of 23, and when combined with another gamete the result is that the embryo possesses 47 chromosomes in total. 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 they survive longer but with severe mental retardation, health and development and therefore very low quality life.

Palavras-chave : Syndrome; Chromosome; Meiosis; Aneuploidy; Trisomy; Phenotype.