Intellectual Disability
Molecular Diagnosis of X-Fragile Syndrome: Perspectives for the Public Health System in the Central Region of Brazil
Authors: K.B. Penteado, C.I.S. Gressler, A.D. Da Cruz, T.C. Vieira, & M.A. D. Gigonzac
X-Fragile Syndrome (FXS) is the most common cause of inherited intellectual disability and the second of genetic origin, with an estimated prevalence of 1/4000 men and 1/6000 women. The etiology is associated with a trinucleotide expansion of CGG sequences and hypermethylation of the promoter region of the FMR1 (Fragile-X Ment.. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039848
- DOI:
- 10.4238/gmr16039848
SETD5 gene variant associated with mild intellectual disability - a case report
Authors: E. Stur, L.A. Soares and I.D. Louro
The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself i.. Read More»
- Genet. Mol. Res. 16(2):
- gmr16029615
- DOI:
- 10.4238/gmr16029615
Molecular analysis of patients suspected of Fragile X Syndrome
Authors: A.P. Amancio, C.A. de O. Melo, A. de M. Vieira, L.B. Minasi, D. de M. e Silva, C.C. da Silva and A.D. da Cruz
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, in.. Read More»
- Genet. Mol. Res. 14(4):
- DOI http://dx.doi.org/2015.November.18.30
- DOI:
- DOI http://dx.doi.org/10.4238/2015.November.18.30
Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil
Authors: G.S. Vianna1, P.F.V. Medeiros2, A.F. Alves2, T.O. Silva2 and F.S. Jehee1
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.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017769
- DOI:
- 10.4238/gmr.15017769