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a) Abnormalt antal kromosomerb) Avvikande kromosomstruktur, exv. deletion/duplikation, translokation, inversion, isokromosom, ringkromosom, markörkromosom)c) Inget segment saknas eller finns extra trots strukturell kromosomavvikelse. Frisk fenotyp.d) Kromosomavvikelse som resulterar i en sjuk fenotyp.
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