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Human chromosome 9 is involved in a number of recurrent structural rearrangements; moreover, its pericentromeric region exhibits a remarkable evolutionary plasticity. In this study we present the molecular characterization of a constitutional rearrangement, involving the 9p21.1q13 region, which led to the formation of a supernumerary marker chromosome (SMC). We defined the sequence of the breakpoints and identified a new set of duplicons on human chromosome 9, named LCR9s (chromosome 9 low-copy repeats). Two of these duplicons were shown to be involved in a somatic exchange leading to the formation of the SMC. High-resolution FISH coupled to database search demonstrated that a total number of 35 LCR9 paralogs are present in the human genome. These newly described chromosome 9 duplicons have features that may be crucial in driving structural chromosome rearrangements in germinal and somatic cells.

Original publication




Journal article



Publication Date





747 - 757


Dipartimento di Genetica e Microbiologia A. Buzzati Traverso, Università di Pavia, Via Ferrata 1, 27100 Pavia, Italy.


Chromosomes, Human, Pair 9, Humans, Chromosomal Instability, DNA, Genetic Markers, In Situ Hybridization, Fluorescence, Evolution, Molecular, Gene Rearrangement, Base Sequence, Repetitive Sequences, Nucleic Acid, Genes, Duplicate