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The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
- Source :
- Cytogenetic & Genome Research; 2003, Vol. 101 Issue 2, p118-123, 6p, 1 Color Photograph, 1 Diagram, 2 Charts
- Publication Year :
- 2003
-
Abstract
- Jumping translocations (JTs) are very rare chromosome aberrations, usually identified in tumors. We report a constitutional JT between donor chromosome 21q21.3→qter and recipients 13qter and 18qter, resulting in an ∼15.5-Mb proximal deletion 21q in a girl with mild developmental delay and minor dysmorphic features. Using fluorescence in situ hybridization (FISH) studies, we identified an ∼550-kb complex inter- and intra-chromosomal low-copy repeat (LCR) adjacent to the 21q21.3 translocation breakpoint. On the recipient chromosomes 13qter and 18qter, the telomeric sequences TTAGGG were retained. Genotyping revealed that the deletion was of maternal origin. We propose that genome architecture involving LCRs may be a major mechanism responsible for the origin of jumping translocations. Copyright © 2003 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]
- Subjects :
- CHROMOSOMES
GENETICS
FLUORESCENCE in situ hybridization
GENOMES
TELOMERES
Subjects
Details
- Language :
- English
- ISSN :
- 14248581
- Volume :
- 101
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Cytogenetic & Genome Research
- Publication Type :
- Academic Journal
- Accession number :
- 11397922
- Full Text :
- https://doi.org/10.1159/000074166