Diagnóstico citogenético e análise do perfil cínico em indivíduos com deficiência intelectual (di), não síndrome de Down

Abstract

Chromosomal aberrations are the main causes of genetic diseases. One of the characteristics of certain genetic syndromes is the intellectual disability (ID), in varying degrees, by their carriers. The study of ID, its etiology, associated or not with chromosomal alterations and a clinical diagnosis associated with the examination of karyotype becomes important tool to assist in genetic counseling of families. Due to lack of similar studies and cytogenetic services easy access to the Amazonian population, this study aimed to contribute to the advancement of this study in the State line. Analyses were performed clinical diagnosis through data collection in an interview and medical records beyond the karyotype analysis of 31 patients with ID, not Down syndrome, attended by APAE-Manaus. Of these, 20 were female and 11 male. The results showed only 2 cases of chromosome abnormalities detectable by classical cytogenetics, mosaicism of Turner syndrome and a heterochromatic variant. It is therefore necessary to complement the study with addition of molecular techniques for the investigation of microdeletions and/or other alterations not detectable by banding technique mainly used for individuals whose dysmorphisms point suspected syndrome. .

Keywords: ID, classical cytogenetics, G band.