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| Araújo,A.; Ramos,E.S.. |
| The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Turner syndrome; X-inactivation; HUMARA assay; DNA methylation; Criptic mosaicism. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000500004 |
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| Santos,Luana Oliveira dos; Bispo,Adriana Valéria Sales; Barros,Juliana Vieira de; Laranjeira,Raysa Samanta Moraes; Pinto,Rafaella do Nascimento; Silva,Jaqueline de Azevêdo; Duarte,Andréa de Rezende; Araújo,Jacqueline; Sandrin-Garcia,Paula; Crovella,Sergio; Bezerra,Marcos André Cavalcanti; Belmont,Taciana Furtado de Mendonça; Cavalcanti,Maria do Socorro; Santos,Neide. |
| Abstract Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and 179 healthy women. An association was observed for the A/G genotype of CTLA-4 +49A/G in TS patients (p=0.043, odds ratio [OR]=0.54). In... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CTLA-4 gene; Immune genes; Obesity; Polymorphism; Turner syndrome. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500727 |
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