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| Mazzeu,Juliana F.; Krepischi-Santos,Ana Cristina; Rosenberg,Carla; Lourenço,Charles M.; Lezirovitz,Karina; Szuhai,Karoly; Martelli,Lúcia R.; Vianna-Morgante,Angela M.. |
| Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented by array-comparative genomic hybridization (Array-CGH). In addition to the typical features of PRDS, the patient exhibited some clinical signs (genital hypoplasia, radioulnar synostosis and mesomelic limb shortness) infrequently, or never previously, reported in PRDS. These findings broaden the spectrum of anomalies generally associated with these... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Pitt-Rogers-Danks syndrome Robinow syndrome translocation t(4; 8) Wolf-Hirschhorn syndrome. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300007 |
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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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