Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].
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.
Boccone
L
L
Istituto di Clinica e Biologia dell'Età Evolutiva, Università di Cagliari, Italy.
Meloni
A
A
Falchi
A M
AM
Usai
V
V
Cao
A
A
D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D002897:Chromosomes, Human, Pair 7; D005143:Eyelids / Q000002:abnormalities; D006801:Humans; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic