A Cytogenetic Study in a Large Population of Intellectually Disabled Indonesians

作者：Mundhofir Farmaditya E P; Winarni Tri Indah; van Bon Bregje W; Aminah Siti; Nillesen Willy M; Merkx Gerard; Smeets Dominique; Hamel Ben C J; Faradz Sultana M H; Yntema Helger G^*

来源：Genetic Testing and Molecular Biomarkers, 2012, 16(5): 412-417.

DOI：10.1089/gtmb.2011.0157

Genetic factors play a significant role in the etiology of intellectual disability (ID). The goal of this study was to identify microscopically visible chromosomal abnormalities in an Indonesian ID population and to determine their frequency, pattern, and clinical features. A total of 527 intellectually disabled individuals from special schools and institutions in 4 different areas on Java Island, Indonesia, were screened for cytogenetic abnormalities. Additional analyses were carried out for verification or further characterization by using fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, or analysis of the FMR1 promoter CGG(n) repeat. Of the 527 individuals with ID, chromosomal abnormalities were found in 87 (16.5%). Trisomy 21 was the major chromosomal abnormality, identified in 74 patients (14%). Other chromosome abnormalities included 8 X-chromosomal and 5 autosomal aberrations. Details on chromosome aberrations and confirmation analyses are discussed. This study shows that chromosomal abnormalities are an important cause of ID in Indonesia. Cytogenetic analysis is important for an adequate diagnosis in patients and subsequent genetic counseling for their families, especially in developing countries with limited facilities, such as Indonesia.

• 出版日期2012-5