Abstract
BackgroundEtiology of developmental delay/intellectual disability is very heterogeneous. In recent years, genetic causes have been defined through the use of chromosomal microarray analysis as a first step genetic test.ResultsSamples from 30 patients with multiple congenital anomaly and/or mental retardation were analyzed with array comparative genomic hybridization in the context of this study. Before this analysis, karyotyping, subtelomeric fluorescence in situ hybridization and additionally fragment analysis for fragile X in males, had been routinely made all of which were reported to be normal. The purpose of our study was to determine the copy number variations as well as to investigate methods to increase diagnostic yield of array comparative genomic hybridization and forming a suitable flow chart decision pipeline for test indication especially for developing countries. Genomic changes were identified at a rate of about 27% in our series. Although this ratio is higher than the literature data, it could be due to the patient selection criteria.ConclusionChromosomal microarray analysis is not easily utilized for all patients because of its high-cost. Thus, for increasing cost-effectiveness, it may be used step by step for defined targets. Along with discussing the patients with copy number variations relevant with the phenotype, we suggest a flow chart for selection of diagnostic test with the highest diagnostic rate and the lowest expenditure which is quite important for developing countries.
Highlights
Developmental delay/intellectual disability (DD/ID) which is observed with an incidence of 1–3% in the population is defined as a significant impairment of cognitive and adaptive function before the age of 18
Thirty patients with multiple congenital anomaly and/or mental retardation (MCA/MR) who were consulted to the Department of Medical Genetics, Ankara University School of Medicine were enrolled in this study
This ratio was higher than the literature data, it could be the effect of patient selection criteria
Summary
Developmental delay/intellectual disability (DD/ID) which is observed with an incidence of 1–3% in the population is defined as a significant impairment of cognitive and adaptive function before the age of 18. It is a group of disorder associated with personal, familial and social effects [1,2,3]. Etiology is heterogeneous with many environmental and genetic factors Genetic alterations such as chromosomal imbalances, known microdeletion/duplication syndromes, gene. Chromosomal microarray analysis is the first step genetic test in this group with a diagnostic yield of 10–20% [1, 9]. Genetic causes have been defined through the use of chromosomal microarray analysis as a first step genetic test
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