Bei der X-chromosomalen Vererbung geht man traditionell davon aus, dass das Übertragungsmuster von weiblichen Trägern auf betroffene Männer erfolgt und dass daher eine weibliche Trägerin eine 50-prozentige Wahrscheinlichkeit hat, betroffene Männer zu zeugen, und eine 50-prozentige Wahrscheinlichkeit weibliche Träger. Diese Annahme ist jedoch nur bei rezessiven Erkrankungen erfüllt.
Darüber hinaus gibt es bestimmte Umstände, die zu einem „umgekehrten“ Vererbungsmuster führen können, bei dem Frauen betroffen sind und Männer nicht. Dieses paradoxe Phänomen tritt bei verschiedenen bedeutenden neurologischen Erkrankungen auf, wobei das Rett-Syndrom die bekannteste ist.
- Rett-Syndrom (MeCP2).
- Epilepsie im Zusammenhang mit PCDH19.
- DDX3X-bedingte neurologische Entwicklungsstörung.
- CDKL5-assoziierte neurologische Entwicklungsstörung.
- Incontinentia pigmenti.
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1.
Migeon BR. X-chromosomale Erkrankungen: anfällige Frauen. Genetics in Medicine [Internet]. Juli 2020 [abgerufen am 5. April 2021];22(7):1156–74. Verfügbar unter: https://www.nature.com/articles/s41436-020-0779-4
