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

Boccone, L

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]. [electronic resource] - American journal of medical genetics Jul 1994 - 258-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0148-7299

10.1002/ajmg.1320510317 doi


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