Blepharophimosis,ptosis, epicanthus inversus syndrome,a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)] |
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| Authors: | Loredana Boccone Antonella Meloni Angela M Falchi Valeria Usai Antonio Cao |
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| Institution: | Istituto di Clinica e Biologia del'Età Evolutiva, Università di Cagliari, Cagliari, Italy |
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| Abstract: | This paper reports a further case of blepharophimosis, ptosis, epicanthus inversus (BPES) syndrome associated with a reciprocal translocation 46,XY,t(3;7)(q23;q32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region. © 1994 Wiley-Liss, Inc. |
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| Keywords: | BPES syndrome de novo 3q/7q translocation BPES gene(s) at 3q23 band |
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