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| Villela,Darine; Kimura,Lilian; Schlesinger,David; Gonçalves,Amanda; Pearson,Peter L.; Suemoto,Claudia K.; Pasqualucci,Carlos; Krepischi,Ana Cristina; Grinbergand,Lea T.; Rosenberg,Carla. |
| Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD. Rare CNVs were identified in six patients (21%), in particular a 40 kb deletion at 17p13.2 encompassing the CTNS gene. Homozygote mutations in CTNS are known to cause cystinosis, a disorder characterized by the intralysosomal accumulation of cystine in all tissues. We present the first CNV results in individuals presenting AGD and a possible candidate gene implicated in the disorder. |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Argyrophilic grain disease; Copy number variations; CNVs; Array-CGH; CTNS. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400006 |
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| Riegel,Mariluce. |
| The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The field of cytogenetics is particularly important for medical diagnostics and research as well as for gene ordering and mapping. Furthermore, the increased application of molecular biology techniques, such as array-based technologies, has led to improved resolution,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Molecular cytogenetics; FISH; Array-CGH; Copy number variation; Genomic disorders. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200006 |
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| Oliveira,Jakeline Santos; Joaquim,Tatiana Mozer; Silva,Rosana Aparecida Bicudo da; Souza,Deise Helena de; Martelli,Lúcia Regina; Moretti-Ferreira,Danilo. |
| Abstract Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The patient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32::p11.1 → p13.31::p13.31 → qter). A genetic gain of approximately 28 Mb was detected in the chromosomal region arr[GRCh37]12p13.31-p11.1(6914072_34756209)x3. The chromosomal alteration seen in our patient is described as “pure” partial... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Duplication 12p; Array-CGH; Facial dysmorphism. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100103 |
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