Publication year
2002Source
Cancer Genetics and Cytogenetics, 136, 1, (2002), pp. 17-22ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Gynaecology
Journal title
Cancer Genetics and Cytogenetics
Volume
vol. 136
Issue
iss. 1
Page start
p. 17
Page end
p. 22
Subject
Chromosomal aberrations and cancer; Chromosomale aberraties en kankerAbstract
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.
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- Faculty of Medical Sciences [86157]
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