FLUORESCENCE IN-SITU HYBRIDIZATION REVEALS TRISOMY 2Q BY INSERTION INTO 9P IN HEPATOBLASTOMA

Cytogenetics and fluorescence in situ hybridization (FISH) of a hepato blastoma are presented. The results of standard chromosome analysis we re as follows: 47,XY,+2,add(4)(q35), -9,+20[10]. FISH with the use of whole-chromosome paints revealed partial trisomy of the long arm of ch romosome 2 by insertion into chromosome 9. Comparison of the G-banded metaphases with metaphase FISH led to a reinterpretation of the karyot ype as: 7,XY,add(4)(q35),der(9)ins(9;2)(p22;q?21q?25),+20. This case s upports previous observations that the critical region of trisomy 2 li es between 2q21 and qter and shows how partial trisomy 2q may evade de tection in G-banded metaphases. (C) Elsevier Science Inc., 1998.