CLINICAL MANIFESTATIONS OF TRISOMY 4P SYNDROME

Trisomy 4p syndrome is a distinct clinical entity which was noted almo st a quarter century ago by Wilson et al. [71] and later was delineate d by Gonzalez and colleagues [29]. The variation in the length of dupl icated segment usually associated with monosomy of other genetic mater ial which has resulted in confusion and as a result a so-called 4p syn drome could not be recognized without cytogenetic analysis. We wish to draw the attention of clinicians to this subject by presenting the de scription of over 75 cases including one from our clinic and stress th e point that molecular approaches are imperative to characterize this anomaly. After extensive review, it appears that patients retaining at least the distal two-thirds to the entire short arm share an overlapp ing phenotypic expression that constitutes pure trisomy 4p syndrome wh ich includes prominent glabella, bulbous nose with flat or depressed n asal bridge, retrognathia, pointed chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet w ith prominent heel, Arachnodactyly and camptodactyly. Molecular charac terization of 4p is imperative. We have also included an extensive bib liography for clinicians who may find it useful as a single reference source for evaluating their future cases. Conclusion The 4p-syndrome i s a distinct entity but without cytogenetic evaluation, the syndrome c an not be recognized.