Übersetzung für 'X-linked dominant' von Englisch nach Deutsch

X-linked dominant {adj}

X-chromosomal-dominantbiol.

---

X-linked dominant inheritance

X-chromosomal-dominanter Erbgang {m}biol.med.

• The third kind is X-linked dominant inheritance, in this kind of inheritance, patients can be of any sex.
• X-linked dominant erythropoietic protoporphyria is a relatively mild version of porphyria with the predominant symptom being extreme photosensitivity causing severe itching and burning sensation of the skin due to the buildup of protoporphyrin IX.
• In such a case, where both parents carry and thus are affected by an X-linked dominant disorder, the chance of a daughter receiving two copies of the X chromosome with the defective gene is 50%, since daughters receive one copy of the X chromosome from both parents.
• Genetically, those who have an X-linked dominant disorder that disrupts phosphate transport at the renal tubules (X-Linked hypophosphatemic rickets) and are receiving oral phosphate treatment have shown to be at high risk of developing tertiary hyperparathyroidism in the absence of secondary hyperparathyroidism.
• X-linked dominant protoporphyria is a rare form of erythropoietic protoporphyria caused by a gain-of-function mutation in ALAS2 characterized by severe photosensitivity.

  ---

• In a class of autosomal and X-linked dominant diseases known as trinucleotide repeat disorders (for example, Huntington's disease), a molecular mechanism for anticipation has also been demonstrated.
• In humans, these are termed X-linked recessive, X-linked dominant and Y-linked.
• Type 2 Kabuki syndrome demonstrates an X-linked dominant pattern of inheritance.
• For instance, neurofibromatosis 1 and 2, Tuberous sclerosis complex, Von Hippel-Lindau syndrome and Legius syndrome are inherited in an autosomal dominant manner.
• CMTX is predominantly classified with symptoms related to muscle weakness and sensory problems, especially in the outer extremities of the limbs.

  ---