DiGeorge Syndrome (DGS) is a genetic disease cause by the deletion of section q11.2 of genes in chromosome 22. It is one of the several presentation of a syndrome called 22q11.2 deletion syndrome. It was discovered in 1968 by a pediatric endocrinologist named Angelo M. DiGeorge.
The 22q11.2 deletion syndrome is responsible for many a number of diseases and, in relationship to how much genetic material is lost, it can affect a person in different ways (usually, if more genetic material is lost, the disease will be more severe).
As shown in this picture, the syndrome is caused by a deletion of genes in chromosome 22.
Genetics of DiGeorge Syndrome
DiGeorge affects 1 in every 4,000 live births and can be inherited in an autosomal dominant pattern. However, only 5-10% of reported DGS cases are inherited. 90-95% of people with DGS obtained it as a random birth defect caused by an error during meiosis.
Associated health issues
People born with DiGeorge Syndrome may develop serious health problems such as:
-Low calcium levels
-Poor immune system
-Poor development of parathyroid glands
-Behavioral, mental, or learning disorders
Also, people with DiGeorge have bluish skin due to poor circulation; they suffer from weakness or tiring easily; they have poor development of muscle, frequent infections, and difficulty feeding, partly due to a gap in the roof of the mouth (cleft palate). DGS also causes noticeable facial features such as low-set ears, wide-set eyes or a narrow groove in the upper lip.
DiGeorge Syndrome is incurable. Depending on the amount of genetic material deleted, the disease could be lethal. Most reported cases, however, are not lethal but could be if left untreated. Like, many genetic diseases, DGS is treated by alleviating the symptoms. For example, patients will need to take calcium supplements and vitamin D to survive due to their calcium deficiency. Also, in some cases surgery may be required. It is important to remember that, as this is a genetic disease, it is in every cell of the body of an affected person, and therefore, it is, for the time being, impossible to cure.
The International 22q11.2 Deletion Syndrome Foundation is in charge of bringing support to patients of 22q11.2 and also DiGeorge Syndrome, as one of its manifestations. Here is their website: http://www.22q.org/
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Tuesday, March 29, 2011
In this blog, we intend to present information about DiGeorge Syndrome. This disease is one of the most common genetic maladies. It affects 1 of every 4,000 people. Even though genetically speaking, the disease is autosomal dominant (if one of the parents has the disease, there is a 50% chance the progeny will have the disease), only 5% of the cases recorded are hereditary. Most (95% of the cases) are produced by random genetical errors during reproduction and fertilization. The disease can affect anyone, anywhere, without a warning. Therefore it is important that everyone is educated in the disease. Also, DiGeorge can affect a person in various degrees of severity and most patients reach an adult age. So, it is important that people are educated in this condition for the social integration of "digeorgies". In this blog, that is our purpose: to educate and inform about the implications of DiGeorge Syndrome, its effect on people, and about the disease itself.