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



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ID: 473660.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Hypergonadotropic hypogonadism in a patient with inv ins (2;4)
Authors:Tzschach, A.; Ramel, C.; Kron, A.; Seipel, B.; Wüster, C.; Cordes, U.; Liehr, T.; Hoeltzenbein, M.; Menzel, C.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V.; Decker, J.; Steinberger, D.
Language:English
Date of Publication (YYYY-MM-DD):2009-06
Title of Journal:International Journal of Andrology
Journal Abbrev.:Int J Androl
Volume:32
Issue / Number:3
Start Page:226
End Page:230
Copyright:© 2009 John Wiley & Sons, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description:We report on a 30-year-old man with azoospermia, primary hypogonadism and minor dysmorphic features who carried a balanced insertional chromosome translocation inv ins (2p24;4q28.3q31.22)de novo. Molecular cytogenetic analyses of the chromosome breakpoints revealed the localization of the breakpoint in 4q28.3 between BACs RP11-143E9 and RP11-285A15, an interval that harbours the PCDH10 gene. In 4q31.22, a breakpoint-spanning clone (RP11-6L6) was identified which contains the genes LSM6 and SLC10A7. On chromosome 2, BACs RP11-531P14 and RP11-360O18 flank the breakpoint in 2p24, a region void of known genes. In conclusion, the chromosome aberration of this patient suggests a gene locus for primary hypogonadism in 2p24, 4q28.3 or 4q31.2, and three possible candidate genes (LSM6, SLC10A7 and PCDH10) were identified by breakpoint analyses.
Free Keywords:Array CGH; Azoospermia; Balanced chromosome aberration; Hypergonadotropic hypogonadism; Insertional translocation; Primary hypogonadism
Comment of the Author/Creator:email: tzschach@molgen.mpg.de
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Practice of Human Genetics, Friedrichstrasse, Berlin Bioscientia Center for Human Genetics, Ingelheim Endocrinology and Internal Medicine, Mainz
Institute of Human Genetics and Anthropology, Friedrich-Schiller-University, Jena, Germany
Identifiers:DOI:10.1111/j.1365-2605.2007.00839.x
ISSN:0105-6263
URL:http://www3.interscience.wiley.com/cgi-bin/fulltex...
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