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  Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23)

Tzschach, A., Kelbova, C., Weidensee, S., Peters, H., Ropers, H.-H., Ullmann, R., et al. (2008). Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23). Ophthalmic Genetics, 29(1), 37-40. doi:10.1080/13816810701867615.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8044-4 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8045-2
Genre: Journal Article
Alternative Title : Ophthalmic Genet

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 Creators:
Tzschach, Andreas1, Author              
Kelbova, Christina, Author
Weidensee, Sabine, Author
Peters, Hartmut, Author
Ropers, Hans-Hilger1, Author              
Ullmann, Reinhard2, Author              
Erdogan, Fikret1, Author              
Jurkatis, Jan3, Author
Menzel, Corinna3, Author
Kalscheuer, Vera M.4, Author              
Demuth, Stephanie, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
3Max Planck Society, ou_persistent13              
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: FOXL2; balanced chromosome translocation; blepharophimosis-ptosis-epicanthus inversus syndrome; BPES; premature ovarian failure
 Abstract: We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn.BPES is a rare autosomal dominant congenital disorder characterized by the eponymous oculo-facial features that are, in female patients, associated either with (type 1 BPES) or without (type 2 BPES) premature ovarian failure. Both types of BPES are caused by heterozygous mutations in the FOXL2 gene, which is located in chromosome band 3q23. Chromosome aberrations such as balanced rearrangements have only rarely been observed in BPES patients but can provide valuable information about regulatory regions of FOXL2. The translocation in this patient broadens our knowledge of pathogenic mechanisms in BPES and highlights the importance of conventional cytogenetic investigations in patients with negative results of FOXL2 mutation screening as a prerequisite for optimal management and genetic counseling.

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Language(s): eng - English
 Dates: 2008-03-01
 Publication Status: Published in print
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Title: Ophthalmic Genetics
  Alternative Title : Ophthalmic Genet
Source Genre: Journal
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Pages: - Volume / Issue: 29 (1) Sequence Number: - Start / End Page: 37 - 40 Identifier: -