Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.
We report a 6-year-old, mentally retarded boy with typical clinical signs and symptoms of the blepharophimosis syndrome (blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)), born to normal parents. Chromosome studies revealed an interstitial deletion in the long arm of chromosome 3: del(3)(q22.3-->q23). This observation reinforces previous suggestions that the location of the BPES gene is at 3q2, i.e. 3q22.3-q23.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Strømme
P
P
van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities