Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue

Turner Syndrome (TS) is defined as a total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and the development of gonadoblastoma, we proposed in this study to evaluate the presence of these fragments in two tissues with different embryonic origin, peripheral blood lymphocytes (mesoderm) and oral mucosa cells (ectoderm) by the technique multiplex PCR. DNA samples were collected from 109 patients and primers for the SRY, TSPY and AMELX genes were used. We found 14 patients (12.8%) with positive molecular markers for Y chromosome. The study of tissues of different embryological origin, such as blood and oral tissue obtained the same degree of agreement, as well as the same sensitivity and specificity. The use of oral mucosa cells is a simpler method of collection and less invasive, has less time for DNA extraction at a lower cost.