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Robertsonsk translokation mellan kromosom 14 och 21. Läroboken sid 48. Erfarenhetsmässigt vet man att kvinnans risk är l0-l5% och broderns <1% (män med translokationer av detta slag blir oftare infertila än kvinnor).Eftersom de har förhöjd risk att få barn med en obalanserad kromosomavvikelse bör de informeras om möjligheten till fosterdiagnostik, chrionvillibiopsi (CVB) v 10-11, fostervattenprov v 15, eller preimplantatorisk genetisk diagnostik (PGD) som görs i samband med in vitro fertilisering (IVF).
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