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  Hypergonadotropic hypogonadism in a patient with inv ins (2;4)

Tzschach, A., Ramel, C., Kron, A., Seipel, B., Wüster, C., Cordes, U., et al. (2009). Hypergonadotropic hypogonadism in a patient with inv ins (2;4). International Journal of Andrology, 32(3), 226-230. doi:10.1111/j.1365-2605.2007.00839.x.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D82-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D83-F
Genre: Journal Article
Alternative Title : Int J Androl

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 Creators:
Tzschach, A.1, Author              
Ramel, C., Author
Kron, A., Author
Seipel, B., Author
Wüster, C., Author
Cordes, U., Author
Liehr, T., Author
Hoeltzenbein, M.2, Author
Menzel, C.2, Author
Ropers, H.-H.1, Author              
Ullmann, R.3, Author              
Kalscheuer, V.4, Author              
Decker, J., Author
Steinberger, D., Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
4Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: Array CGH; Azoospermia; Balanced chromosome aberration; Hypergonadotropic hypogonadism; Insertional translocation; Primary hypogonadism
 Abstract: 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.

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Language(s): eng - English
 Dates: 2009-06
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

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Title: International Journal of Andrology
  Alternative Title : Int J Androl
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 32 (3) Sequence Number: - Start / End Page: 226 - 230 Identifier: ISSN: 0105-6263