Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome.
We report on a 6-year-old boy with de novo 46,XY,del(3)(q12q23) and bilateral blepharophimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further "contiguous gene syndrome."
Fujita
H
H
Department of Human Development and Welfare, Faculty of the Science of Living, Osaka City University, Japan.
Meng
J
J
Kawamura
M
M
Tozuka
N
N
Ishii
F
F
Tanaka
N
N
D000328:Adult; D016569:Blepharophimosis / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D008297:Male; D013577:Syndrome