Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Cytogenetic, FISH, and molecular results of 20 cases with de novo tandem duplications of 18 different autosomal chromosome segments are reported. There were 12 cases with direct duplications, three cases with inverted duplications, and five in whom determination of direction was not possible. In sev...

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Hlavní autoři: Kotzot, D., Martinez, M., Bagci, G., Basaran, S., Baumer, A., Binkert, F., Brecevic, L., Castellan, C., Chrzanowska, K., Dutly, F., Gutkowska, A., Karauzum, S. B., Krajewska-Walasek, M., Luleci, G., Miny, P., Riegel, M., Schuffenhauer, S., Seidel, H., Schinzel, A.
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2000
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734569/
https://ncbi.nlm.nih.gov/pubmed/10745046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.4.281
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