These developmental abnormalities include absence of the limb, failure of portions of the limb to separate (commonly fingers and toes), duplication of digits, or overgrowth or undergrowth of limbs. Genetics
Inheritance Pattern
The inheritance pattern for the Chromosome 9p deletion syndrome is inherited in an autosomal dominant inheritance pattern. This means that a single copy of the deletion is sufficient to cause the disease. Mutation
The mutation, which occurs in the form of a deletion of the short arm of chromosome 9, causes the cell to not express the gene products normally controlled by the genes within the chromosome 9 deletion. Genes Involved
The 9p deletion causes a loss of genes that would normally be there. Which genes are lost on the short arm of chromosome 9 dictates the symptoms that are present within the individual and the spectrum of disease severity. Most of the genes involved are associated with the development of tissues.There are many possible genes that can be deleted, but two particular genes that are proven to be involved in the emergence of the symptoms associated with Chromosome 9p deletion syndrome are DMRT1 and DMRT2. When DMRT1 and DMRT2 are deleted, genital malformations and mental retardation are evident although, the direct mechanisms as to how this occurs remains undefined. Location
Geneticists originally had the syndrome narrowed down to the short arm region of Chromosome 9. Now, the location of the deletion has recently been narrowed to 9p22.2-p23. Diagnosis
Diagnoses can occur at any age.
Abacavir, sold under the brand name Ziagen among others, is a medication used to treat HIV/AIDS. Similar to other nucleoside analog reverse-transcriptase inhibitors (NRTIs), abacavir is used together with other HIV medications, and is not recommended by itself. It is taken by mouth as a tablet or solution and may be used in children over the age of three months.Abacavir is generally well tolerated. Common side effects include vomiting, insomnia (trouble sleeping), fever, and feeling tired. Other common side effects include loss of appetite, headache, nausea (feeling sick), diarrhea, rash, and lethargy (lack of energy). More severe side effects include hypersensitivity, liver damage, and lactic acidosis. Genetic testing can indicate whether a person is at higher risk of developing hypersensitivity. Symptoms of hypersensitivity include rash, vomiting, and shortness of breath. Abacavir is in the NRTI class of medications, which work by blocking reverse transcriptase, an enzyme needed for HIV virus replication. Within the NRTI class, abacavir is a carbocyclic nucleoside.Abacavir was patented in 1988, and approved for use in the United States in 1998. It is on the World Health Organizations List of Essential Medicines. It is available as a generic medication. Abacavir is used together with other HIV medications, such as abacavir/lamivudine/zidovudine, abacavir/dolutegravir/lamivudine, and abacavir/lamivudine. The combination abacavir/lamivudine is an essential medicine. Medical uses
Abacavir, in combination with other antiretroviral agents, is indicated for the treatment of HIV-1 infection. Abacavir should be used in combination with other antiretroviral agents.