title: A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat.
abstract: Cytogenetic analysis of peripheral lymphocytes of an infantile patient with a sacral teratoma revealed a constitutional translocation (12;15)(q13;q25) pat. The same translocation was found in four additional relatives. Loss of heterozygosity analysis of the patient's tumor material showed retention of both translocation-derived chromosomes. Since allelic loss in the 12q13 region has been observed in germ cell tumors, we hypothesize that disregulation of genes located at or near the 12q13 breakpoint may be related to the development of this sacral teratoma. As a first step towards the identification of these genes, a 12q13 genomic contig that spans the breakpoint has been constructed.
authors.affiliation: Department of Human Genetics, University Medical Center, Nijmegen, The Netherlands. i.veltman@antrg.azn.nl
authors.forename: Imke
authors.initials: I
authors.lastname: Veltman
authors.forename: Martien
authors.initials: M
authors.lastname: van Asseldonk
authors.forename: Marga
authors.initials: M
authors.lastname: Schepens
authors.forename: Hans
authors.initials: H
authors.lastname: Stoop
authors.forename: Leendert
authors.initials: L
authors.lastname: Looijenga
authors.forename: Cokkie
authors.initials: C
authors.lastname: Wouters
authors.forename: Lutgarde
authors.initials: L
authors.lastname: Govaerts
authors.forename: Ron
authors.initials: R
authors.lastname: Suijkerbuijk
authors.forename: Ad
authors.initials: A
authors.lastname: van Kessel
mesh_terms: D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002881:Chromosomes, Human, Pair 12; D002884:Chromosomes, Human, Pair 15; D020451:Contig Mapping; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D007621:Karyotyping; D019656:Loss of Heterozygosity; D012445:Sacrococcygeal Region; D013724:Teratoma / Q000235:genetics*; D014178:Translocation, Genetic