Intellectual disability

Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil

G. S. Vianna, Medeiros, P. F. V., Alves, A. F., Silva, T. O., Jehee, F. S., Vianna, G. S., Medeiros, P. F. V., Alves, A. F., Silva, T. O., and Jehee, F. S., Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil, vol. 15, p. -, 2016.

In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes. In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation. Blood samples were collected from the proband and from their parents when possible. DNA was extracted and investigated using the array-CGH test. Findings were evaluated for the pathogenicity in databases of benign and pathogenic changes (ISCA, UCSC, DGV, and DECIPHER).

Molecular analysis of patients suspected of Fragile X Syndrome

A. P. Amancio, Melo, C. Ade O., A. Vieira, deM., Minasi, L. B., D. Silva, deM. e, da Silva, C. C., and da Cruz, A. D., Molecular analysis of patients suspected of Fragile X Syndrome, vol. 14, pp. 14660-14669, 2015.

The aim of this study was to validate the molecular genetic diagnosis of patients suspected of Fragile X Syndrome (FXS) in the Laboratory of Human Cytogenetics and Molecular Genetics (LaGene) of the Department of Health of the State of Goiás, using polymerase chain reaction (PCR). Thirty-five patients referred by public health doctors to LaGene, indicating clinical diagnosis of FXS, were selected for this study. Two PCR analyses were performed using different primers, one for screening (PCR-T) and one for the detection of the pre-mutation (PCR-P).

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