In X-linked inheritance, it has classically been considered that the transmission pattern occurs from carrier females to affected males, and that therefore, a carrier female would have a 50% probability of conceiving affected males and a 50% probability of conceiving carrier females. However, this assumption is only met in the case of recessive diseases.
In addition, there are certain circumstances that can give rise to an "inverted" inheritance pattern, with affected women and unaffected men. This paradoxical phenomenon occurs in several relevant neurological diseases, the best known being Rett syndrome.
- Rett syndrome (MeCP2).
- PCDH19-related epilepsy.
- DDX3X-related neurodevelopmental disorder.
- CDKL5-related neurodevelopmental disorder.
- Incontinentia pigmenti.
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https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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