Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

doi:10.3928/0191-3913-19980901-06

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Article

Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Journal of pediatric ophthalmology and strabismus - 1 Jan 2000

Costa T, Pashby R, Huggins M, Teshima I E

Abstract excerpt

BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition mapped to chromosome 3q23. There are several reports of chromosomal abnormalities involving this region with a resultant phenotype that includes BPES. METHOD: We reassessed two unrelated boy...

Topics

Blepharophimosis
Blepharoptosis
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 3
Eyelids
Follow-Up Studies
Humans
Karyotyping
Male
Phenotype
Syndrome

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