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

Purpose: Turner syndrome is defined as 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 development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction.

Methods: DNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used.