Deletion

A deletion is a mutation in which a part of the chromosome or DNA is deleted or lost. It may be intrinsic or due to inappropriate chromosome crossover during meiosis. This deficiency is the cause of patient abnormalities. One known disease seen as a result of deletion is Wolf-Hirschhorn syndrome. Wolf et al. [1] and Hirschhorn et al. Wolf-Hirschhorn syndrome (WHS), first described by [2], is due to a short-arm hemizygous deletion of the distal chromosome. Because of the complicated and inconspicuous expression of this disease, the WHS hypothesis is a continuous genetic syndrome in which an indefinite number of genes cause a phenotype.

22q11.2 Deletion syndrome is an inherited disorder caused by deletion or deletion of chromosome 22. The missing part exists conceptually, in the case of 10% it is considered to have been inherited from the parent; in the other 90% case, deletion happens by chance. In the case of Nadia, she was the only 22q deleted person in the family. This syndrome may affect different parts of the body, but even in the same family there are differences between affected individuals.

The 22q deficiency syndrome (22q DS), also known as DiGeorge syndrome and Velo-Cardio-Facial syndrome, can develop on various parts of the body. People with 22q deletion syndrome have small segments of chromosome 22 deletion called microdeletions. This microdefect contains many genetic calcium: children with 22q deficiency syndrome may lower calcium levels. Maintaining a good source of calcium diet is important, as calcium content is very low and may cause cramping (convulsion). Lifetime monitoring of calcium is important because calcium levels decrease during surgery, during adolescence (puberty) and during pregnancy as a result of surgical stress

Hypoparathyroidism usually occurs in children with 22q11.2 deficiency at birth or shortly after birth. Sometimes, the discovery of low calcium levels is the cause of the doctor's order to test the diagnosis of 22q 11.2. Hypothyroidism in the neonatal period may be temporary, but there is a report that hypoparathyroidism has recurred in the second half of childhood. In most cases, these children suffer from mild hypoparathyroidism not sustained and detected, but they exceed the margin due to interventions. Children with deficiency of 22q 11.2 with normal calcium level at birth generally do not continue hypoparathyroidism