Phenotype of five patients with Greig syndrome and microdeletion of 7p13

Here we describe five patients with Greig cephalopolysyndactyly syndrome (G CPS), including one pair of monozygotic twin boys with a de novo microdelet ion involving the chromosomal band 7p13, where various clinical manifestati ons, in addition to GCPS, were recognized. Besides the twin pair, all patie nts are unrelated. Since there is a considerable lack of well-defined clini cal delineation of the few patients with microdeletions involving 7p13 with GCPS described so far, we focus on the symptoms that are not typically rel ated to GCPS, such as moderate psychomotor retardation, seizures, muscle fi ber anomalies, cardiac anomalies, hyperglycemia, and hirsutism. Our observa tions suggest that in all cases of atypical GCPS, the presence of a cytogen etically detectable microdeletion or a submicroscopic deletion of 7p13 shou ld be suspected. (C) 2001 Wiley-Liss, Inc.