Search results
Results from the WOW.Com Content Network
Samoyed hereditary glomerulopathy (SHG) is a hereditary, X-linked, noninflammatory disease of the renal glomeruli, occurring in the Samoyed breed of dog. The disease has been shown to be a model for Alport syndrome in humans [1] in that the disease resembles that of the human disease. Because of this, it is sometimes referred to by the name ...
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. [1] Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.
Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. [citation needed] In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier.
This mutation is inherited following an X-linked recessive pattern, which means that for a person to exhibit the symptoms of the condition, they must have inherited a copy of the malfunctioning gene in all of their copies of the X chromosome. For this reason, the condition affects males more than it affects females, this is due to the fact that ...
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, [1] is an X-linked recessive mitochondrial and connective tissue disorder.It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene.
Absence of the XK protein is an X-linked disease. [3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis: the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may have both diseases. [4]
Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). [3]
In medicine, X-linked dominant inheritance indicates that a gene responsible for a genetic disorder is located on the X chromosome, and only one copy of the allele is sufficient to cause the disorder when inherited from a parent who has the disorder. In this case, someone who expresses an X-linked dominant allele will exhibit the disorder and ...