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Amancio A.P.,Pontifical Catholic University of Goias | Melo C.A.O.,Pontifical Catholic University of Goias | Vieira A.M.,Pontifical Catholic University of Goias | Minasi L.B.,Pontifical Catholic University of Goias | And 6 more authors.
Genetics and Molecular Research | Year: 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). The products of both PCRs were subjected to polyacrylamide gel electrophoresis and then coloring. The visualization of amplicons was performed with the aid of an ultraviolet transilluminator. The diagnosis was confirmed in 88% of patients with PCR-T and 100% with PCR-P. The primer used in PCR-P was found to be more sensitive and specific, allowing to identify the mutation in the samples, generating a more conclusive case for FXS, noting that the PCR-T is also required for the pre-classification of patients. Generally, the PCR technique is cheaper and easier to handle; therefore, we suggest the implementation of PCR in the genetics laboratory of the State of Goiás (LaGene) for the diagnosis of FXS. © FUNPEC-RP.

Minasi L.B.,Pontifical Catholic University of Goias | Pinto I.P.,Pontifical Catholic University of Goias | de Almeida J.G.,Pontifical Catholic University of Goias | de Melo A.V.,Pontifical Catholic University of Goias | And 12 more authors.
Genetics and Molecular Research | Year: 2015

We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ hybridization analyses also showed the absence of 13qter and the presence of 13q14.3 in the cells with r(13), and chromosome microarray analysis detected a 15.39 Mb deletion in chromosome region 13q32.3-q34. This study is intended as the registry of a rare case of chromosomal rearrangement involving chromosome 13 in Central Brazil. Further studies are needed to define whether genetic haploinsufficiency is associated with each major 13q deletion anomaly. ©FUNPEC-RP.

Leite A.J.C.,Pontifical Catholic University of Goias | Pinto I.P.,Pontifical Catholic University of Goias | Pinto I.P.,Federal University of Goais | Da Cruz E Cunha D.M.,Pontifical Catholic University of Goias | And 9 more authors.
BioMed Research International | Year: 2016

The chromosome 22q11.2 region has long been implicated in genomic diseases. Some genomic regions exhibit numerous low copy repeats with high identity in which they provide increased genomic instability and mediate deletions and duplications in many disorders. DiGeorge Syndrome is the most common deletion syndrome and reciprocal duplications could be occurring in half of the frequency of microdeletions. We described five patients with phenotypic variability that carries deletions or reciprocal duplications at 22q11.2 detected by Chromosomal Microarray Analysis. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had clinical indication to global developmental delay and a normal karyotype. We observed in our study three microdeletions and two microduplications in 22q11.2 region with variable intervals containing known genes and unstudied transcripts as well as the LCRs that are often flanking and within this genomic rearrangement. The identification of these variants is of particular interest because it may provide insight into genes or genomic regions that are crucial for specific phenotypic manifestations and are useful to assist in the quest for understanding the mechanisms subjacent to genomic deletions and duplications. © 2016 Ana Julia Cunha Leite et al.

Pinto I.P.,Pontifical Catholic University of Goias | Pinto I.P.,Federal University of Goais | Minasi L.B.,Pontifical Catholic University of Goias | Minasi L.B.,Federal University of Goais | And 13 more authors.
Molecular Cytogenetics | Year: 2014

Background: Chromosome abnormalities that segregate with a disease phenotype can facilitate the identification of disease loci and genes. The relationship between chromosome 18 anomalies with severe intellectual disability has attracted the attention of cytogeneticists worldwide. Duplications of the X chromosome can cause intellectual disability in females with variable phenotypic effects, due in part to variations in X-inactivation patterns. Additionally, deletions of the 7qter region are associated with a range of phenotypes. Results: We report the first case of de novo microdeletion at 7q and 18p, 18q partial trisomy, microduplication at Xp associated to intellectual disability in a Brazilian child, presenting a normal karyotype. Karyotyping showed any chromosome alteration. Chromosomal microarray analysis detected a de novo microdeletion at 18p11.32 and 18q partial trisomy, an inherited microdeletion at 7q31.1 and a de novo microduplication at Xp22.33p21.3. Conclusions: Our report illustrates a case that presents complex genomic imbalances which may contribute to a severe clinical phenotypes. The rare and complex phenotypes have to be investigated to define the subsets and allow the phenotypes classification. © 2014 Pinto et al.; licensee BioMed Central Ltd.

Pereira R.R.,Pontifical Catholic University of Goias | Pereira R.R.,Federal University of Goais | Pinto I.P.,Pontifical Catholic University of Goias | Minasi L.B.,Pontifical Catholic University of Goias | And 14 more authors.
PLoS ONE | Year: 2014

Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous. Microscopic chromosomal abnormalities and wellcharacterized genetic conditions are the most common causes of intellectual disability. Chromosomal Microarray Analysis analyses have made it possible to identify putatively pathogenic copy number variation that could explain the molecular etiology of intellectual disability. The aim of the current study was to identify possible submicroscopic genomic alterations using a high-density chromosomal microarray in a retrospective cohort of patients with otherwise undiagnosable intellectual disabilities referred by doctors from the public health system in Central Brazil. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had intellectual disability and a normal karyotype. The analysis detected 18 CNVs in 60% of patients. Pathogenic CNVs represented about 22%, so it was possible to propose the etiology of intellectual disability for these patients. Likely pathogenic and unknown clinical significance CNVs represented 28% and 50%, respectively. Inherited and de novo CNVs were equally distributed. We report the nature of CNVs in patients from Central Brazil, representing a population not yet screened by microarray technologies. © 2014 Pereira et al.

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