Trisomy 9 (pter → q1 to q3): the phenotype as an objective aid to karyotypic interpretation

Abstract

The phenotypic findings of 3 patients whose karyotypic interpretations were uncertain were compared to patients with trisomy 9 (pter .fwdarw. q1 to q3). One with an extra, small acrocentric chromosome and another with a trisomy due to an inherited C/G translocation have a phenotype compatible with the trisomy 9 (pter .fwdarw. q1) syndrome. In a 3rd patient reported with 47,XY,?16+, the trisomy 9p probably extends past the q1 region.