Naritomi K, Izumikawa Y, Goya Y, Gushiken M, Shiroma N, Hirayama K
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
Clin Genet. 1989 Apr;35(4):293-8. doi: 10.1111/j.1399-0004.1989.tb02947.x.
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.
