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          Institute: MPI für molekulare Genetik     Collection: Department of Computational Molecular Biology     Display Documents

ID: 411286.0, MPI für molekulare Genetik / Department of Computational Molecular Biology
Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23)
Authors:Tzschach, Andreas; Kelbova, Christina; Weidensee, Sabine; Peters, Hartmut; Ropers, Hans-Hilger; Ullmann, Reinhard; Erdogan, Fikret; Jurkatis, Jan; Menzel, Corinna; Kalscheuer, Vera M.; Demuth, Stephanie
Date of Publication (YYYY-MM-DD):2008-03-01
Title of Journal:Ophthalmic Genetics
Journal Abbrev.:Ophthalmic Genet
Issue / Number:1
Start Page:37
End Page:40
Copyright:© 2009 Informa plc
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:FOXL2; balanced chromosome translocation; blepharophimosis-ptosis-epicanthus inversus syndrome; BPES; premature ovarian failure
External Publication Status:published
Document Type:Article
Communicated by:Martin Vingron
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Gemeinschaftspraxis für medizinische Genetik, Dresden, Germany;
2.Praxis für Humangenetik, Erfurt, Germany
3.Institute of Medical Genetics, Charite Hospital, Berlin, Germany.
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