Chromosome 22 microdeletion 22q11

Below you will find more information about Chromosome 22 microdeletion 22q11 from Medigest. If you believe that you are suffering from any of the symptoms of Chromosome 22 microdeletion 22q11 it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Chromosome 22 microdeletion 22q11 and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Chromosome 22 microdeletion 22q11 comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Chromosome 22, microdeletion q11 syndrome, also known as Di George Syndrome, Velocardiofacial syndrome and Strong syndrome is a genetic disorder caused by the deletion of a small part in chromosome 22 and occurs near the midsection of the chromosome located at q11.2.

Treatment

This genetic disorder is first diagnosed by using fluorescence in situ hybridization (FISH) to detect deletions in chromosome 22. Genetic testing can be taken in order to conduct such diagnosis, and this is available especially for prenatal testing. There is no particular treatment yet for this condition, as genetic transplantation is still being developed. It is thus important to detect the immune problems as early as possible in order to prepare for blood transfusion and immunization with live vaccines. Infections meanwhile are cured by antibiotics, and heart problems may undergo surgery.

Symptoms and Signs

The symptoms of this disease include congenital heart problems, defects in the palate, autism, retardation, mild facial deformities and recurrent fungal or viral infections due to a poor immune system. Some patients in this condition may also suffer from kid problems, autoimmune disorders and higher risks of having mental illnesses. The microdeletions in this particular chromosomal region are linked with schizophrenia and are usually found in schizophrenic patients. Other symptoms of this syndrome include: Hypocalcemia Feeding problems Renal issues Hearing loss with craniofacial syndromes Growth hormone deficiency Laryngotracheosophageal anomalies Seizures Skeletal problems

Causes

The syndrome is a result of genetic deletions on the long arm of chromosome 22. Other patients meanwhile showing similar features may have deletions this time on the short arm of the 10th chromosome.

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