Patients do not have all the features or the same level of gravity. The condition is associated with heart defects, cleft palate and recurrent infections.
MEXICO – The Dr. Federico Gómez Children’s Hospital of Mexico has the tools to detect rare genetic disorders such as DiGeorge syndrome, which tends to occur in one out of four thousand births.
This alteration, also known as velocardiofacial syndrome, is associated with defects heart, recurrent infections and palate cleft lip.
Veronica Moran Barroso, head of the Department of Genetics of the institution, explained that those with this diagnosis lack a portion of chromosome 22 at the q11 region, which causes loss of information about 40 genes and therefore developmental defects specific structures throughout the body.
This condition is also associated with endocrine problems, psychiatric disorders, prominent eyelids, fatigue, thyroid, loss or abnormality of hearing, low calcium levels in blood and ears in square shape.
In addition there is potential for severe immune dysfunction manifest in adulthood and present psychiatric disorders such as schizophrenia or bipolar disorder.
According to the geneticist, patients with this diagnosis do not have all the features or the same level of gravity.
Similarly these diseases are not always related to a genetic disorder and therefore a specialist should make the diagnosis.
Detection is usually performed by the Fluorescence in situ hybridization (FISH) technique i.e. highly specialized technique that uses fluorescent probe to detect abnormalities in chromosomes.
To provide comprehensive care the hospital, for 10 years, one of its specialized units has been staffed by a multidisciplinary group of specialists in endocrinology, cardiology, genetics, psychiatry and speech therapy.
In this specialized unit they will cater for about 100 small for diseases of various kinds related to DiGeorge syndrome, who are kept under strict medical supervision.