22q11.2 deletion syndrome

The 22q11.2 deletion syndrome (also listed as several other names listed below) is a disease caused by a small segment of chromosome 22 deletion. The deletion occurs at the q 11.2 position near the center of the chromosome.

22q 11.2 Deficiency syndrome has many possible signs and symptoms that may affect nearly every part of the body. The characteristics of this syndrome differ greatly among affected people of the same family. Common symptoms and symptoms include cardiac abnormalities occurring at birth, opening at the top of the mouth (cleft cleft), and unique facial features. People with 22q 11.2 deficiency syndrome often have recurrent infections caused by problems of the immune system and others have autoimmune diseases such as rheumatoid arthritis and Grave's disease. Tissue and organ sufferers are also associated with respiratory problems, abnormal kidneys, low levels of calcium in the blood (which can cause seizures), thrombocytopenia (thrombocytopenia), severe eating difficulties , Gastrointestinal disorders and hearing loss. Differences in skeleton are considered, such as mild height and abnormal vertebra decrease

22q 11.2 Many children with deficiency syndrome develop developmental disorders such as growth retardation, development of speech, learning disabilities, and so on. In later years, the risk of mental disorders such as schizophrenia, depression, anxiety and bipolar disorder increases. In addition, affected children are more likely to develop Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders that affect communication and social interactions than children without 22q 11.2 deficiency syndrome is.

Because the signs and symptoms of 22q11.2 deletion syndrome are very diverse, different features were once described as separate conditions. The doctor named the disease DiDiorge syndrome, epidemic facial syndrome (also known as Shprintzen syndrome) and conotruncal abnormal facial syndrome. In addition, some children with a 22q11.2 deficiency were diagnosed with autosomal dominant type Opitz G / BBB syndrome and Cayler cardia syndrome. Once the genetic basis of these diseases is determined, the physician will decide that they are all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is often referred to as 22q11.2 deletion syndrome, based on its underlying genetic cause.

The influence of 22q11.2 deficiency syndrome is estimated to be 1 in 4,000 people. However, this situation is actually more general than this estimate. Doctors and researchers doubt that diagnosis is inadequate due to their various characteristics. People with mild symptoms or symptoms may not be able to determine the condition or may be mistaken for other diseases with duplicated features.

In some cases, it may be delivered to a child from a parent affected by DiGeorge syndrome (22q 11.2 deficiency syndrome). 22q 11.2 If you are concerned about family history of deficiency syndrome, or if you already have children with this syndrome, you may need to consult a geneticist specialist (geneticologist) or a genetic counselor to plan a plan I do not think so. Future pregnancy

Development is difficult. An infant with 22q11.2 deficiency syndrome may have difficulty reaching the developmental stages such as sitting, walking, speaking. The International 22q 11.2 Deletion Syndrome Foundation recommends that parents consider physical therapy (PT), occupational therapy (OT) and speech therapy for affected children. PT strengthens the muscles and helps children achieve milestones of development. OT focuses on small muscles used for skills, such as tying the shoelaces and closing the clothes. It can also help solve eating problems. Linguistic therapy helps to eliminate possible language delays that can occur after a child is one year old.

Di George syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a small part of chromosome 22 deletion. Symptoms vary, but usually there are congenital heart diseases, specific facial features, frequent infections, developmental disorders, learning disabilities, clefts and clefts. Relevant symptoms include kidney problems, hearing loss, autoimmune diseases such as rheumatoid arthritis and Grave's disease. DiGeorge syndrome is usually due to the deletion of 30 to 40 genes in the middle of chromosome 22 at position 22q 11.2. Approximately 90% of cases occur due to new mutations in the early stages of development, but 10% of cases are inherited by their parents. It is autosomal dominant, which means that the disease requires only one affected chromosome. Diagnosed based on symptoms and suspected to be confirmed by genetic testing