{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T15:26:24Z","timestamp":1770218784595,"version":"3.49.0"},"reference-count":29,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Broken chromosomes must acquire new telomeric \u201ccaps\u201d to be structurally stable. Chromosome healing can be mediated either by telomerase through <jats:italic>neo<\/jats:italic>-telomere synthesis or by telomere capture.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Aim:<\/jats:bold> To unravel the mechanism(s) generating complex chromosomal mosaicisms and healing broken chromosomes.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> G banding, array comparative genomic hybridization (aCGH), fluorescence <jats:italic>in<\/jats:italic>-<jats:italic>situ<\/jats:italic> hybridisation (FISH) and short tandem repeat analysis (STR) was performed on a girl presenting with mental retardation, facial dysmorphism, urogenital malformations and limb anomalies carrying a complex chromosomal mosaicism.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results &amp; discussion:<\/jats:bold> The karyotype showed a <jats:italic>de novo<\/jats:italic> chromosome rearrangement with two cell lines: one cell line with a deletion 9pter and one cell line carrying an inverted duplication 9p and a non-reciprocal translocation 5pter fragment. aCGH, FISH and STR analysis enabled the deduction of the most likely sequence of events generating this complex mosaic. During embryogenesis, a double-strand break occurred on the paternal chromosome 9. Following mitotic separation of both broken sister chromatids, one acquired a telomere <jats:italic>via<\/jats:italic>\n                  <jats:italic>neo<\/jats:italic>-telomere formation, while the other generated a dicentric chromosome which underwent breakage during anaphase, giving rise to the del inv dup(9) that was subsequently healed by chromosome 5 telomere capture.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusion:<\/jats:bold> Broken chromosomes can coincidently be rescued by both telomere capture and neo-telomere synthesis.<\/jats:p>","DOI":"10.1136\/jmg.2006.045476","type":"journal-article","created":{"date-parts":[[2006,12,15]],"date-time":"2006-12-15T20:58:48Z","timestamp":1166216328000},"page":"250-256","source":"Crossref","is-referenced-by-count":32,"title":["Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere 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