A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat.
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.
Veltman
Imke
I
Department of Human Genetics, University Medical Center, Nijmegen, The Netherlands. i.veltman@antrg.azn.nl
van Asseldonk
Martien
M
Schepens
Marga
M
Stoop
Hans
H
Looijenga
Leendert
L
Wouters
Cokkie
C
Govaerts
Lutgarde
L
Suijkerbuijk
Ron
R
van Kessel
Ad
A
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