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Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome BJMBR
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:
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