Winarni, Tri Indah A Cytogenetic Study in a Large Population of Intellectually Disabled Indonesians. GENETIC TESTING AND MOLECULAR BIOMARKERS.
|PDF (A Cytogenetic Study in a Large Population of Intellectually Disabled Indonesians)|
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.
|Subjects:||Q Science > QH Natural history > QH426 Genetics|
|Divisions:||Faculty of Medicine > Department of Medicine|
Faculty of Medicine > Department of Medicine
|Deposited By:||INVALID USER|
|Deposited On:||14 Jun 2019 16:11|
|Last Modified:||14 Jun 2019 16:11|
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