what is Di George Syndrome?

Question

there was a question on here about it and was just wundering what it is.
thanx

Chariotme...
thanx for your answer but to anyone else who answers this can you please make it a bit clearer as im 16 and i didnt really understand that answr sorry.

Answer 1

It is a heart problem which can be operated if its not severe. My new born baby had it but he died after 17 days. The valve was leaking and the blood was mixing with the oxygen so people who has it get sweaty alot. They also have interupted arches which make the heart work twice then ours. The face features are different, they have low eyes, low ears, lips not straight. Di George Syndrome is associated with heart problems which can be genetic.

Answer 2

(m)

22q11.2 deletion syndrome also known as DiGeorge syndrome, is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. It has a birth incidence estimated at 1:4000.

The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms include heart defects that are often present from birth, an opening in the roof of the mouth (a cleft palate or other defect in the palate), learning disabilities, recurrent infections caused by problems with the immune system, and mild differences in facial features. Affected individuals may also have kidney abnormalities, low levels of calcium in the blood (which can result in seizures), significant feeding difficulties, autoimmune disorders such as rheumatoid arthritis, and an increased risk of developing mental illnesses such as schizophrenia and bipolar disorder.

Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors often refer to these as the CATCH 22 syndrome and includes DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), hearing loss with craniofacial syndromes and conotruncal anomaly face syndrome, thymic hypoplasia, cleft palate, psychiatric disorders, and hypocalcaemia.

In addition, some children with the 22q11.2 deletion were diagnosed with Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.

Answer 3

Di George Syndrome is a congenital immune disorder characterized by lack of embryonic development (stage in prenatal development between 2-8 weeks inclusive) or underdevelopment of the third and fourth pharyngeal pouches. It is also called thymic aplasia (failure of the thymus to develop naturally), thymic hypoplasia (defective development of tissue), or third and fourth pharyngeal arch or pouch syndrome. The syndrome is often associated with congenital heart defects, abnormalities of the large blood vessels around the heart, failure of the esophageal tube to develop, abnormalities of facial structures, and of hypoparathyroidism (insufficient secretion of the parathyroid glands). In most cases, there is a chromosomal defect on chromosome 22.