Clinical delineation of proximal and distal partial 13q trisomy

Abstract

The most relevant phenotypic features seen in both proximal and distal partial trisomy 13 have been identified from a review of 35 cases. Clinical delineation of either proximal or distal partial trisomy 13 has been demonstrated through the use of conspicuous phenotypic differences. The findings of persistent foetal Hb and increased number of nuclear projections on neutrophils are consistent findings associated with partial trisomy of a proximal segment of chromosome 13 and are diagnostic for trisomy of a partial segment of chromosome 13 that contains bands 13q12 and 13q14. The physical features of polydactyly and hemangioma have been mapped to bands 13q31 and 13q32----13qter and provide a differential diagnosis for a distal trisomic segment of chromosome 13 that may include bands 13q22----13qter. A segment of chromosome 13 has been identified that does not produce any detectable phenotypes in the triplicated state. The possible role of a triplicated 13q segment in altering expression of structural and regulatory systems elsewhere in the genome has been examined. Distinct clinical syndromes involving either a partial proximal or partial distal trisomic segment of chromosome 13 may be phenotypically defined.