title: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.
abstract: We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated with eye abnormalities, specifically blepharophimosis and ptosis, strongly suggests that a locus for eyelid development is present at the interface of bands 3q22.3 and 3q23.
authors.affiliation: Department of Pediatrics, Bowman Gray School of Medicine of Wake Forest University Medical Center, Winston-Salem, North Carolina 27157.
authors.forename: T
authors.initials: T
authors.lastname: Jewett
authors.forename: P N
authors.initials: PN
authors.lastname: Rao
authors.forename: R G
authors.initials: RG
authors.lastname: Weaver
authors.forename: W
authors.initials: W
authors.lastname: Stewart
authors.forename: I T
authors.initials: IT
authors.lastname: Thomas
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
mesh_terms: D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D005143:Eyelids / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome