The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3

qter and recipients 13qter and 18qter, resulting in an approximately 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 approximately 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. -->

ISSN:	1424-859X 1424-8581
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a451de66fc352c3e97329b38c48a4e8 https://doi.org/10.1159/000074166
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....5a451de66fc352c3e97329b38c48a4e8
Autor:	P Stankiewicz, R Saleki, Kinga Szigeti, Sau Wai Cheung, J. R. Lupski, Christine J. Shaw
Rok vydání:	2003
Předmět:	Chromosomes Human Pair 21 Developmental Disabilities Chromosome Breakpoints Translocation Breakpoint Chromosomal translocation Biology Translocation Genetic Genetics medicine Humans Child Molecular Biology In Situ Hybridization Fluorescence Genetics (clinical) Repetitive Sequences Nucleic Acid Chromosomes Human Pair 13 medicine.diagnostic_test Chromosome Breakage Low copy repeats Female Chromosome breakage Chromosomes Human Pair 18 Chromosome 21 Chromosome 22 Fluorescence in situ hybridization
Zdroj:	Cytogenetic and Genome Research. 101:118-123
ISSN:	1424-859X 1424-8581
Popis:	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 approximately 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 approximately 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a451de66fc352c3e97329b38c48a4e8 https://doi.org/10.1159/000074166 Zobrazit plný text záznamu