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Vid de X-bundet recessiva sjukdomar där de sjuka pojkarna inte får barn är 1/3 av fallen orsakade av nymutationer och 2/3 är nedärvda, d v s modern är anlagsbärare. (Se läroboken sid 64).Upprepningsrisken är därmed: 2/3 (modern bär anlaget) x 1⁄2 (att nästa barn är en son) x 1⁄2 att barnet ärvt anlaget = 1/6I den aktuella familjen känner man till sjukdomsorsaken och kan därför fastställa om modern är anlagsbärare. Om mamman bär anlaget (har samma deletion av HPRT1 som sonen) kan man erbjuda fosterdiagnostik eller pre-implantatorisk genetisk diagnostik (PGD).

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