Author/Authors :
Veltman، نويسنده , , Imke and van Asseldonk، نويسنده , , Martien and Schepens، نويسنده , , Marga and Stoop، نويسنده , , Hans and Looijenga، نويسنده , , Leendert and Wouters، نويسنده , , Cokkie and Govaerts، نويسنده , , Lutgarde and Suijkerbuijk، نويسنده , , Ron and van Kessel، نويسنده , , Ad Geurts، نويسنده ,
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 patientʹs 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.
