caa a22 4500 397575548 CHVBK 20180308164855.0 cr unu---uuuuu 161202e199609 xx s 000 0 eng 10.1093/hmg/5.9.1279 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.9.1279 Breakpoint Diversity Illustrates Distinct Mechanisms for Robertsonian Translocation Formation [Elektronische Daten] [Scott L. Page, Jong-Chul Shin, Jin-Yeong Han, K. H. Andy Choo, Lisa G. Shaffer] Robertsonian translocations are the most common chromosomal rearrangements in humans. The vast majority of the ten possible nonhomologous types of Robertsonian translocations ascertained are rob(13q14q) and rob(14q21q). Recombination between homologous sequences on nonhomologous chromosomes has been proposed as a mechanism leading to the preferential formation of rob(13q14q) and rob(14q21q). However, little evidence exists to indicate whether the remaining less common Robertsonian translocations form through a similar mechanism. To better elucidate the mechanisms involved in Robertsonian translocation formation, we have used fluorescence in situ hybridization to localize the breakpoints in 56 nonhomologous Robertsonian translocations. This study revealed highly variable locations of breakpoints in seven types of the less common Robertsonians, while nearly all rob(13q14q) and rob(14q21q) analyzed displayed breakpoints in the same locations. Therefore, this study provides direct evidence that rob(13q14q) and rob(14q21q) form through a specific mechanism, possibly involving homologous recombination, which is distinct from the mechanism(s) that contributes to the formation of the remaining types of Robertsonian translocations. © 1996 Oxford University Press Page Scott L. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA aut Shin Jong-Chul Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA aut Han Jin-Yeong Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA aut Andy Choo K. H. Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville 3052, Australia aut Shaffer Lisa G. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA aut Human Molecular Genetics Oxford University Press 5/9(1996-09), 1279-1288 0964-6906 5:9<1279 1996 5 hmg https://doi.org/10.1093/hmg/5.9.1279 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.9.1279 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Page Scott L. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA aut NATIONALLICENCE 700 1- Shin Jong-Chul Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA aut NATIONALLICENCE 700 1- Han Jin-Yeong Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA aut NATIONALLICENCE 700 1- Andy Choo K. H. Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville 3052, Australia aut NATIONALLICENCE 700 1- Shaffer Lisa G. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/9(1996-09), 1279-1288 0964-6906 5:9<1279 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford