Another example favouring the location of BPES at 3q2.

Another example favouring the location of BPES at 3q2Recently in this Journal, de Die-Smulders et all reported a father and son both affected with BPES (blepharophimosis, ptosis, epicanthus inversus syndrome) and carrying a balanced 3; 1(q21;q23) translocation in the absence of mental retardation.These findings provided new evidence for the location of the BPES gene at 3q2, as previously suggested by Fukushima et al,2 who reported an infant carrying a de novo translocation involving the 3q23 region.We report on a young girl with mild men- tal retardation, blepharophimosis, ptosis, telecanthus, epicanthus inversus, and a de novo apparently balanced 3;8(q23;p21.1)translocation (fig 1).The patient is micro- cephalic and mildly mentally handicapped with a few other clinical features such as an arched palate, ears of normal size but low set and abnormally shaped with incompletely folded helices, short neck, bilateral limited elbow pronation and limited thumb adduc- tion, and mild hypotonia.Cytogenetic analysis of the parents' karyotypes indicated a paternal origin of the abnormal chromosome 3.No cell line is available from this patient at present.