title: Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor.
abstract: We previously reported the non-random occurrence of monosomy 22 in rhabdoid or atypical teratoid tumors of the brain in three young children. We now present cytogenetic and molecular studies of an additional rhabdoid tumor with the karyotype 46,XX,-9,-22,+i(1q),+der(22)t(9;22)(p13;q11)/45,XX,-9,-10,- 22,+i(1q),+der(22)t(9;22)(p13;q11). These studies further demonstrate the involvement of chromosome 22, and they begin to define the critical region containing a gene or genes involved in the development or progression of rhabdoid tumors of the brain.
authors.affiliation: Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104.
authors.forename: J A
authors.initials: JA
authors.lastname: Biegel
authors.forename: C D
authors.initials: CD
authors.lastname: Burk
authors.forename: A H
authors.initials: AH
authors.lastname: Parmiter
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007621:Karyotyping; D012208:Rhabdomyosarcoma / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics