What is digeorge?

Digeorge

22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia, is a syndrome 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—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. It has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge. 22q11 deletion is also associated with truncus arteriosus (see TOF).

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Digeorge's Syndrome
22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome ... The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge ...
Transplantable Organs And Tissues - Other Organs - Thymus
... Thymus transplantation can be used to treat infants with DiGeorge syndrome, which results in an absent or hypoplastic thymus, in turn causing problems with the immune system's T-cell mediated response ... is exclusively used in people with complete DiGeorge anomaly, which are entirely athymic ... This subgroup represents less than 1% of DiGeorge syndrome patients ...
Digeorge - Cognitive and Language Problems - Speech and Language
... Hypernasality occurs when air escapes through the nose during the production of oral speech sounds resulting in reduced intelligibility ... This is a common characteristic in the speech and language profile because 69% of children have palatal abnormalities ...
DGCR6
... DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2 ... This gene could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches ...
Thymus - Disease Associations - Immunodeficiency - DiGeorge Syndrome
... DiGeorge Syndrome is a genetic disorder caused by the deletion of a small section of chromosome 22 ... DiGeorge Syndrome is the most common congenital cause of thymic aplasia in humans ...