Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]
- 1 July 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 51 (3) , 258-259
- https://doi.org/10.1002/ajmg.1320510317
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.Keywords
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