Profile of Patients Attended at the Genetic Service of a Special Care Institution in Brazil

Objective: To analyze the main etiological diagnoses of patients attended at a genetics outpatient clinic of the Association of Parents and Friends of Exceptional Children/APAE in the state of Amazonas, Brazil. Methods: retrospective study of patients seen in the period 2005-2016, with review of medical records. The following data were recorded: sex, origin of referral and etiological diagnosis. Results: 362 patients were attended, 94.7% of them from Manaus, and 5.3% from the interior of the state. The etiological diagnosis was defined in 262 (72.3%) of the sample, of which 254 (70.2%) were of genetic etiology and 8 (2.2%) non-genetic. Of the genetic etiologies, 46 (12.7%) cases were monogenic syndromes, 136 (37.6%) were chromosomal aberrations and 72 (19.9%) had multifactorial causes, however, 100 (27.6%) cases remained unclear. There were several syndromes found, with Down syndrome being the most frequent and correlating significantly with the sex of the patient (male predominance, p < 0.05). Conclusions: The study carried out in the APAE/Manaus genetics outpatient clinic allowed the profile of the patients being attended to be traced. It was verified that the majority of the patients were male and that the diagnosis of chromosomal alterations was the most frequent.