DiGeorge syndrome
22q11.2 deletion syndrome

DiGeorge syndrome(deletion of 22q11.2) is a particularly well known example.

This subgroup represents less than 1% of DiGeorge syndrome patients.

It is associated with chromosome 22 deletions and DiGeorge syndrome.

Another finding is a strong candidate for a gene that gives rise to the major symptoms of DiGeorge syndrome.

DiGeorge syndrome is the most common congenital cause of thymic aplasia in humans.

Some diseases can be inherited from one parent, such as Huntington disease, and DiGeorge syndrome.

DiGeorge syndrome is a genetic disorder caused by the deletion of a small section of chromosome 22.

DiGeorge syndrome, a disease in which hypoparathyroidism can occur due to a total absence of the parathyroid glands at birth.

Interrupted aortic arch is often associated with DiGeorge Syndrome.

DiGeorge Syndrome is one of the most common genetic disorders known, occurring in about one every 4,000 livebirths.

DiGeorge syndrome (when associated with thymic defects)

However, experts say they cannot completely interpret the results today because of the inadequacy of the tests used to detect DiGeorge syndrome.

Hypocalcemia (if associated with DiGeorge syndrome)

Isabel, 3 1/2, has DiGeorge syndrome, a rare hereditary disorder that usually causes heart defects and abnormal development of the esophagus.

However, this is partially explained by that the indication itself, that is, complete DiGeorge syndrome, increases the risk of autoimmune disease.

Several cases have also been reported in which affected individuals have some features of DiGeorge syndrome (DGS).

Thymus transplantation can be used to address absence of the thymus in the rare, so-called "complete" DiGeorge syndrome.

Some cases of DiGeorge Syndrome have defects in other chromosomes, notably a deletion in chromosome region 10p14.

They may have variant deletions of DiGeorge syndrome that may be detectable on a research basis only or with other more advanced clinical testing method.

In humans, it is located on chromosome 22q11, at the ADU breakpoint associated with DiGeorge syndrome.

Cardiac defects, abnormal facial features, thymus underdevelopment, cleft palate, and hypocalcemia characterize DiGeorge syndrome.

Your thymus has been removed or you have a thymus disorder, such as myasthenia gravis, DiGeorge syndrome, or thymoma.

Loss of the thymus at an early age through genetic mutation (as in DiGeorge Syndrome) results in severe immunodeficiency and a high susceptibility to infection.

A study of 54 DiGeorge syndrome infants resulted in all tested subjects having developed polyclonal T-cell repertoires and proliferative responses to mitogens.

It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development.