Therefore, dysfunction of TBX1 may be responsible for some of the symptoms in DiGeorge syndrome.Research in mouse models has shown that deletion of Tbx1 leads to several defects similar to those seen in humans, mainly affecting development of the great arteries and the thymus.The abnormalities seen in the great arteries of mice deficient of Tbx1 are a consequence of abnormal formation and remodelling of the aortic arches during early development. The role of Tbx1 for correct formation and remodelling of the aortic arches has been extensively studied in various mouse models suggesting the key role of Tbx1 for cardiovascular development and the phenotypes seen in DiGeorge syndrome. DGCR8
In mice, haploinsufficiency of the DGCR8 gene has been linked to improper regulation of the microRNA miR-338 and 22q11.2 deletion phenotypes. TANGO2
Transport and golgi organization 2 homolog (TANGO2) also known as chromosome 22 open reading frame 25 (C22orf25) is a protein that in humans is encoded by the TANGO2 gene.The gene coding for C22orf25 is located on chromosome 22 and the location q11.21, so it is often associated with 22q11.2 deletion syndrome. But with TANGO2 disorder being autosomal recessive, will not occur in all cases. Mutations in the TANGO2 gene may cause defects in mitochondrial β-oxidation and increased endoplasmic reticulum stress and a reduction in Golgi volume density. These mutations results in early onset hypoglycemia, hyperammonemia, rhabdomyolysis, cardiac arrhythmias, and encephalopathy that later develops into cognitive impairment. Parkinsons disease genes
22q11.2DS has been associated with a higher risk of early onset Parkinsons disease (PD).
People who are involved in an active lifestyle with high impact on the knees are at greatest risk. Proper management of physical activity may help prevent worsening of the condition. Athletes are advised to talk to a physician for further medical diagnosis, as symptoms may be similar to more serious problems within the knee. Tests are not necessarily needed for diagnosis, but in some situations they may confirm diagnosis or rule out other causes for pain. Commonly used tests are blood tests, MRI scans, and arthroscopy.While the term chondromalacia sometimes refers to abnormal-appearing cartilage anywhere in the body, it most commonly denotes irritation of the underside of the kneecap (or "patella"). The patellas posterior surface is covered with a layer of smooth cartilage, which the base of the femur normally glides smoothly against when the knee is bent. However, in some individuals the kneecap tends to rub against one side of the knee joint, irritating the cartilage and causing knee pain. Diagnosis
When investigating a possible diagnosis of chondromalacia, a physician will carry out a complete examination of the affected knee. The physician will palpate the patella and surrounding tissue, feel the joint to observe when and how the distress manifests and obtains a list of symptoms and clinical history. The following tests or procedures may be used to refine the diagnosis:

A knee X-ray and/or blood test – this can assist to exclude certain types of arthritis or inflammation.