ターナー症候群とその類縁疾患の表現型に対する染色体モザイクとX染色体不活化の影響の研究

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(1) We have shown that in Turner syndrome patients with a 45, X/46, XX karyotype, X inactivation pattern in 46, XX cells are much more skewed compared with normal female subjects. This result suggests that there could be submicroscopic defects in normal looking 46, XX cells of these patients which could be part of the variety in clinical phenotypes of these patients.(2) We sequenced the SRY gene of Turner syndrome patients with a 45, X/46, XY karyotype and showed that SRY mutation is a rare event in these patients. This suggests that 46, XY female and 45, X/46, XY Turner syndrome are made by different mechanisms.