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.
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.
Jewett
T
T
Department of Pediatrics, Bowman Gray School of Medicine of Wake Forest University Medical Center, Winston-Salem, North Carolina 27157.
Rao
P N
PN
Weaver
R G
RG
Stewart
W
W
Thomas
I T
IT
Pettenati
M J
MJ
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