Reddy K S
Cytogenetics Laboratory, Corning Nichols Institute, San Juan Capistrano, California 92690-6130, USA.
Am J Med Genet. 1996 Sep 6;64(4):536-8. doi: 10.1002/(SICI)1096-8628(19960906)64:4<536::AID-AJMG2>3.0.CO;2-N.
This paper documents a prenatal case of maternally inherited subtle duplication of chromosome 9 bands q21.1 to q21.2 and a second case with two G-bands within the 9qh region. Cytogenetic studies of these cases included G-banding, C-banding, fluorescent in situ hybridization (FISH) using chromosome 9 specific library probe, and the classical satellite probe. In both patients, the additional bands were G-bands and C-band negative. By FISH studies they were negative for the satellite heterochromatin probe and positive for the chromosome 9 painting probe. Therefore, the extra bands were presumably euchromatin and part of chromosome 9. The chromosome 9 variants and their possible mechanisms of origin are discussed.