Frequência de Anormalidades Cromoss?micas em Indivíduos Atendidos em um Laboratório de Análises Moleculares em Maringá - PR

摘要

Chromosome abnormalities are currently the most frequent genetic diseases and responsible for high death rates and spontaneous abortions. Current analysis determines the frequency of chromosome abnormalities in all people attended at the laboratory of molecular analyses in Maringá PR Brazil between July 2011 and June 2012 who underwent tests due to a medical suspicion of changes and to evaluate the need to have genetic counseling after the diagnosis. Results showed that out of the 202 patients attended to, 32 (15.8%) had signs of changes, with 23 (71.8%) presenting numerical changes and 9 (28.1%) structural alterations. Mosaicism was also revealed in 13 (6.43%) patients. Results show that cytogenetic diagnosis is highly important for the identification of changes and genetic counseling of the patient and relatives.