SciELO - Scientific Electronic Library Online

 
vol.48 número1Bacteriemia por Chryseobacterium indologenes em diabético em hemodiálise ambulatorialGastrite com corpúsculos de Russell: relato de caso índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Artigo

Indicadores

Links relacionados

  • Não possue artigos similaresSimilares em SciELO

Compartilhar


Jornal Brasileiro de Patologia e Medicina Laboratorial

versão impressa ISSN 1676-2444

Resumo

LINHARES, Natália Duarte; SVARTMAN, Marta  e  VALADARES, Eugênia Ribeiro. Cytogenetic diagnosis of patients with idiopathic mental retardation. J. Bras. Patol. Med. Lab. [online]. 2012, vol.48, n.1, pp. 33-39. ISSN 1676-2444.  http://dx.doi.org/10.1590/S1676-24442012000100007.

Mental retardation is a condition that affects 2%-3% of the population and more than half of the cases are still deemed idiopathic. Its etiology is heterogeneous and chromosome abnormalities play a significant role. The application of classical cytogenetic and molecular cytogenetic techniques has enabled accurate diagnosis in several cases, which allows better clinical monitoring and genetic counseling. This paper aims at informing about the major tests currently available to investigate chromosome abnormalities in patients with idiopathic mental retardation, including GTG-banded karyotyping, fluorescence in situ hybridization (FISH), spectral karyotyping (SKY), multiplex ligation-dependent probe amplification (MLPA) and array-comparative genomic hybridization (array-CGH).

Palavras-chave : Mental retardation; Karyotype; FISH; SKY; MLPA; Array-CGH.

        · resumo em Português     · texto em Português     · pdf em Português