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51. Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].

Author

Boccone L, Meloni A, Falchi AM, Usai V, and Cao A

Subjects
Child, Preschool, Chromosome Banding, Chromosome Mapping, Eyelids abnormalities, Humans, Male, Syndrome, Blepharophimosis genetics, Blepharoptosis genetics, Chromosomes, Human, Pair 3, Chromosomes, Human, Pair 7, Translocation, Genetic
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.

Published
1994
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