A girl with partial trisomy 9q is reported. She was characterized by dolichomorphism, abnormalities of the digits, a cardiac defect and craniofacial dysmorphism. A high-resolution analysis revealed the karyotype to be: 46,XX,-3,+ der(3)t(3;9)(q29;q13) de novo. A phenotype-karyotype correlation study in 22 cases of partial trisomies 9q supported the delineation of a trisomy 9q3 syndrome. The smallest region of overlap was confined to 9q32.