PMID: 9179806May 1, 1997Paper

Molecular and cytogenetic studies of X inactivation in a patient with 46,X,del(X)(q22)

Journal of Pediatric and Adolescent Gynecology
S F WitchelE P Hoffman

Abstract

We report on a phenotypically normal girl with a deletion of the distal long arm of one X chromosome at Xq22, and spontaneous pubertal development including menarche. This suggests that the distal long arm of the X chromosome is not crucial for ovarian development. Cytogenetic and polymerase chain reaction (PCR) amplification methods both showed preferential inactivation of the deleted X chromosome. The PCR-based assay has the additional advantage of identifying the paternal origin of the deleted X chromosome.

References

Jan 1, 1992·American Journal of Medical Genetics·M GrompeF Greenberg
Aug 1, 1992·American Journal of Medical Genetics·D L Van DykeL Weiss
Mar 1, 1991·Fertility and Sterility·T F VenemanP Mollevanger
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jan 1, 1984·Human Genetics·C TruncaZ Rosenwaks
Apr 1, 1994·American Journal of Medical Genetics·C GeerkensW Vogel
Jun 1, 1993·Journal of Medical Genetics·N R DennisP A Jacobs

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Citations

Jan 5, 2002·Annales de génétique·V M Mesa-CornejoS Kofman

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