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Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances.
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- Author(s): Souza, L. C.; Santos, A. P.; Sgardioli, I. C.; Viguetti‐Campos, N. L.; Marques Prota, J. R.; Oliveira‐Sobrinho, R. P.; Vieira, T. P.; Gil‐da‐Silva‐Lopes, V. L.
- Source:
Journal of Intellectual Disability Research. Nov2019, Vol. 63 Issue 11, p1379-1389. 11p. 2 Charts, 1 Graph. - Source:
- Additional Information
- Subject Terms: CONGENITAL heart disease diagnosis; DIAGNOSIS of epilepsy; HEARING disorder diagnosis; KIDNEY disease diagnosis; CENTRAL nervous system diseases; CHROMOSOME abnormalities; CHROMOSOMES; COMPARATIVE studies; DEVELOPMENTAL disabilities; GENETIC polymorphisms; GENOMES; PEOPLE with intellectual disabilities; MICROCEPHALY; RISK assessment; PHENOTYPES; OLIGONUCLEOTIDE arrays
- Abstract: Background: The chromosomal microarray analysis (CMA) is recommended as a first‐tier test for individuals with developmental delay (DD)/intellectual disability (ID) and/or multiple congenital anomalies. However, owing to high costs, this technique is not widely performed for diagnostic purposes in several countries. The aim of this study was to identify clinical features that could favour the hypothesis of genomic imbalances (GIs) in individuals with DD/ID. Methods: The sample consisted of 63 individuals, and all of them underwent a detailed evaluation by a clinical geneticist and were investigated by the CMA. They were divided into two groups. Group A composed of 20 individuals with pathogenic copy number variants (CNVs); and group B composed of 43 individuals with normal CMA results or variants of uncertain clinical significance (VUS). Results: Pathogenic GIs were found in 20 cases (32%), including 11 individuals with an abnormal karyotype, VUS was found in five individuals (8%) and the results were normal in 38 individuals (60%). Major anomalies were found in 15/20 (75%) individuals in group A against 35/43 (81%) in group B. Dysmorphisms (≥5) were found in 17/20 (85%) in group A and 41/43 (95%) in group B. The most frequent major anomalies detected in group A were congenital heart disease, epilepsy and renal malformation; and in group B, they were malformations of central nervous system, congenital heart disease, microcephaly, epilepsy and hearing impairment. There was no significant statistical difference among the frequencies in groups A and B. Conclusions: Evidences point that every individual with DD/ID, with no specific clinical suspicion, should have screening for GIs as a first‐tier test, regardless of the presence or absence of additional major anomalies or dysmorphisms. Future studies with a similar design would be helpful, especially in countries where the access to new technologies is still limited. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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