INVOLVEMENT OF 22Q13.3 IN CHROMOSOMAL-ANOMALIES

In a series of neoplasms involvement of chromosome 22, mainly concerni ng loci within bands 22q11-q12 has been reported. Yet, little is known about chromosomal anomalies in 22q13. As loss of heterozygosity in tw o neurofibromatosis type 2 patients was described in a 22q13.3 locus a nd deletions in the 22q13.3 chromosomal region were noted in a set of 7 patients, we decided to apply several newly isolated cosmids from 22 q13 to analyse additional cases with chromosome 22 anomalies. In addit ion, the study was aided by centromeric probes and chromosome 22 paint ing. Fluorescent in situ hybridization with new cosmids mapping to 22q 13.1 and 22q13.3 did not indicate deletions or rearrangements in one n eurofibromatosis type 2 case [r(22)], a bisatellited chromosome 22 and in a translocation case [t(Y;22)].