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Journal Article

Premature ovarian failure in a woman with an unusual pseudoisodicentric X chromosome

MPS-Authors

Kaischeuer,  Vera M.
Max Planck Society;

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Citation

Volleth, M., Stumm, M., Kaischeuer, V. M., Reschke, K., Liehr, T., & Wieacker, P. (2003). Premature ovarian failure in a woman with an unusual pseudoisodicentric X chromosome. Geburtshilfe und Frauenheilkunde, 63(10), 1054-1057. doi:10.1055/s-2003-42735.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-89A0-E
Abstract
We used cytogenetic and molecular cytogenetic methods to characterize a derivative X chromosome in a woman with premature ovarian failure. The chromosome was characterized as a pseudoisodicentric X chromosome idic(X)(q28). Replication studies showed that the aberrant chromosome was preferentially inactivated. This woman had trisomy of the most part of the X chromosome and monosomy of the subtelomeric region of Xqter. The karyotype/phenotype correlation permits some limited conclusions about the locations of genes involved in ovarian function.