Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)
作者： Andreas Tzschach , Christina Kelbova , Sabine Weidensee , Hartmut Peters , Hans-Hilger Ropers
DOI: 10.1080/13816810701867615
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摘要: We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn.BPES is rare autosomal dominant congenital disorder characterized by eponymous oculo-facial that are, in patients, associated either (type 1 BPES) or without 2 premature ovarian failure. Both types BPES are caused heterozygous mutations FOXL2 gene, which located band 3q23. Chromosome aberrations such as rearrangements have only rarely been observed patients but can provide valuable information about regulatory regions FOXL2. The this broadens our knowledge pathogenic mechanisms highlights importance conventional cytogenetic investigations negative results mutation screening prerequisite for optimal management genetic counseling.
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