A NOVEL CASE OF UNILATERAL BLEPHAROPHIMOSIS SYNDROME AND MENTAL-RETARDATION ASSOCIATED WITH DE-NOVO TRISOMY FOR CHROMOSOME 3Q

We have evaluated a 3 2/12 year old girl who presented with unilateral blepharophimosis, ptosis of the eyelid, and mental retardation. Addit ional dysmorphic features include microcephaly, high, narrow forehead, short stubby fingers, and adduction of the right first toe. Cytogenet ic analysis showed an unbalanced karyotype consisting of 46,XX,add(7)( q+) that was de novo in origin. Fluorescence in situ hybridisation (FI SH) using microdissected library probe pools from chromosomes 1, 2, 3, 7, and 3q26-qter showed that the additional material on 7q was derive d from the distal end of the long arm of chromosome 3. Our results ind icate that the patient had an unbalanced translocation, 46,XX,der(7)t( 3;7) (q26-qter;q+) which resulted in trisomy for distal 3q. All curren tly reported cases of BPES (blepharophimosis-ptosis-epicanthus inversu s syndrome) with associated cytogenetic abnormalities show interstitia l deletions or balanced translocations involving 3q22-q23 or 3p25.3. O ur patient shares similar features to BPES, except for the unilateral ptosis and absence of epicanthus inversus. It is possible that our pat ient has a contiguous gene defect including at least one locus for a t ype of blepharophimosis, further suggesting that multiple loci exist f or eyelid development.