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In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. [ 1 ] [ 2 ] This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Fucosidosis is an autosomal recessive disorder that affects many areas of the body. Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. The enzyme plays a role in the breakdown of complex sugars in the body. [3]
Chédiak–Higashi syndrome [1] (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [2] which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism , and peripheral neuropathy .
Autosomal recessive pattern, showing how two unaffected carriers can have a child with the disease. Some genetic disorders are caused by having two "bad" copies of a recessive allele. When the gene is located on an autosome (as opposed to a sex chromosome), it is possible for both men and women to be carriers .
Carrier testing is a type of genetic testing that is used to determine if a person is a carrier for specific autosomal recessive diseases. [1] This kind of testing is used most often by couples who are considering becoming pregnant to determine the risks of their child inheriting one of these genetic disorders.
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons). [1] Where known, these disorders are inherited in an autosomal recessive fashion. There is ...
Normally, two recessive alleles need to be inherited (one from each parent) for the recessive trait to be expressed but recessive merely means that the trait is only expressed in the absence of the dominant alleles. The pattern of inheritance in which a single recessive allele is inherited but is still expressed is known as pseudodominance.
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. [1] The name of the condition indicates that it affects hearing (oto-) and the bones of the spine (spondylo-), and enlarges the ends of bones (megaepiphyses).