A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat

Imke Veltman, Martien van Asseldonk, Marga Schepens, Hans Stoop, Leendert Looijenga, Cokkie Wouters, Lutgarde Govaerts, Ron Suijkerbuijk, Ad van Kessel

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)17-22
Number of pages6
JournalCancer genetics and cytogenetics
Volume136
Issue number1
DOIs
Publication statusPublished - 1 Jul 2002
Externally publishedYes

Keywords

  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 12
  • Chromosomes, Human, Pair 15
  • Contig Mapping
  • Humans
  • In Vitro Techniques
  • Infant
  • Karyotyping
  • Loss of Heterozygosity
  • Sacrococcygeal Region
  • Teratoma/genetics
  • Translocation, Genetic

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