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- In the DC cases, about 35% cases are X-linked-recessive on the DKC1 locus and 5% cases are autosomal dominant on the TERT and TERC loci.
- The authors suggest a genetic origin with an autosomal or X-linked recessive inheritance rather than resulting from early prenatal disturbances.
- In the majority of cases it is inherited as an X-linked recessive trait, though there are cases which arise from spontaneous mutations.
- The different presentations are complicated by the pattern of X-linked recessive inheritance.
- In humans, these are termed X-linked recessive, X-linked dominant and Y-linked.
- In humans, inheritance of X-linked recessive traits follows a unique pattern made up of three points.
- OTC deficiency is inherited in an X-linked recessive manner, meaning males are more commonly affected than females.
- The disorder is X-linked recessive. About two thirds of cases are inherited from a person's mother, while one third of cases are due to a new mutation.
- Another rare cause of a decreased BUN is ornithine transcarbamylase deficiency, which is a genetic disorder inherited in an X-linked recessive pattern.
- IPEX syndrome is inherited in males by an X-linked recessive process.
- Hunter syndrome has two clinical subtypes and (since it shows X-linked recessive inheritance) is the only one of the mucopolysaccharidoses in which the mother alone can pass the defective gene to a son.
- Almost all cases are X-linked recessive and caused by a mutation in the retinoschisin gene ("RS1").
- It is an X-linked recessive disorder that results in defective glucose-6-phosphate dehydrogenase enzyme.
- Muscular dystrophies may be X-linked recessive, autosomal recessive, or autosomal dominant.
- The inheritance pattern of VWD type 3 is autosomal recessive, while the inheritance pattern of hemophilia A is X-linked recessive.
- All urea cycle defects, except OTC deficiency, are inherited in an autosomal recessive manner.
© dict.cc English-German dictionary 2023
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