Trisomy 9 (pter----q1 to q3): the phenotype as an objective aid to karyotypic interpretation.
The phenotypic findings of three patients whose karyotypic interpretations were uncertain were compared to patients with trisomy 9 (pter---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----q1) syndrome. In a third patient reported with 47,XY,?16+,  the trisomy 9p probably extends past the q1 region.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014314:Trisomy