Another example favouring the location of BPES at 3q2.

Recently 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 mental retardation, blepharophimosis, ptosis, telecanthus, epicanthus inversus, and a de novo apparently balanced 3;8(q23;p21.1) translocation (fig 1). The patient is microcephalic 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 adduction, 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. Blepharophimosis, microcephaly, and psychomotor developmental delay are common findings among the rare published cases of 3q2 interstitial deletions.3 In patients with BPES, intellectual impairment is only occasional and usually mild.4 It is possible that in