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Cytogenetic Diagnosis and Analysis of the Clinical Profile of Individuals with Non-down Syndrome Intellectual Disability

引用

Journal of Pharmacy and Pharmacology 2017年第11期5卷 812-820页

作者： Fantin, C. Prazeres, V. G. M. Benzaquem, D. C. Fernandes, E. R. Q. G. S. Oliveira, D. p. Ribeiro-Lima, J. C. laboratorio de Proteomica e Genomica Departamento de Genetica Molecular e Citogendtica Escola Superior de Ciencias da Saude Universidade do Estado do Amazonas Manaus 69065-001 Brasil departamento de Saude Materno Infantil Universidade Federal do Amazonas Manaus 69076-005 Brasil unidade de laboratorio de analises clinieas Setor de Citogenetiea Hospital Universitario Getulio Vargas Universidade Federal do Amazonas Manaus 69076-005 Brasil

Chromosomal alterations are the main causes of genetic diseases. One of the characteristics of certain genetic syndromes is ID （intellectual disability） presented by the individual in varying degrees. The study of the ID, its etiology, association or not with chromosomal abnormalities and a clinical diagnosis associated with the examination of karyotype are important aspects to consider when providing genetic counseling for families. Due to the lack of similar studies and of easy access to cytogenetic services for the Amazonian population, this study aimed to contribute to the advancement of this line of study in the state, analyzing the karyotype of individuals with ID, not Down Syndrome treated at the APAE-Manaus and identifying the main types of chromosomal alterations in the individuals analyzed. Analyzes were performed of the clinical diagnosis through investigation of the data from the interview and medical records as well as analysis of the karyotype of 31 patients with non-Down syndrome ID, attended in the APAE-Manaus. Of these subjects, 20 were female and 11 male. The results showed only 2 cases of chromosome abnormalities are detectable by classical cytogenetics, one of mosaic Turner syndrome and one a heterochromatic variant. It is therefore necessary to complement the study with the addition of molecular techniques for the investigation of microdeletions and/or other alterations not detectable through the banding technique, mainly for individuals whose dysmorphisms indicate a suspected syndrome.

关键词： Intellectual disability classical cytogenetics G banding.

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