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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



  history
ID: 194825.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Premature ovarian failure in a woman with an unusual pseudoisodicentric X chromosome
Authors:Volleth, M.; Stumm, M.; Kaischeuer, Vera M.; Reschke, K.; Liehr, T.; Wieacker, P.
Language:German
Date of Publication (YYYY-MM-DD):2003-10
Title of Journal:Geburtshilfe und Frauenheilkunde
Journal Abbrev.:Geburtshilfe Frauenheilkd.
Volume:63
Issue / Number:10
Start Page:1054
End Page:1057
Copyright:© Georg Thieme Verlag KG Stuttgart - New York. All rights reserved.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Comment of the Author/Creator:Date: 2003, OCT
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Univ Magdeburg Klinikum, Inst Humangenet, Magdeburg, Germany.; Praxis Pranataldiagnost, Berlin, Germany.; Max Planck Inst Mol Genet, Berlin, Germany.; Univ Magdeburg Klinikum, Klin Endokrinol & Stoffwechselkrankheiten, Magdeburg, Germany.; Univ Jena Klinikum, Inst Humangenet & Anthropol, Jena, Germany.
Identifiers:ISI:000186052100011 [ID No:1]
ISSN:0016-5751 [ID No:2]
DOI:10.1055/s-2003-42735 [ID No:3]
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