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22q11.2 Deletion Syndrome

658 Words3 Pages

22q11.2 Deletion Syndrome 22q11.2 deletion syndrome, also commonly known as DiGeorge syndrome, is a congenital disorder characterised by a wide number of defects, varying in severity. Most notable of these defects include congenital heart disease, palatal deformations and hypocalcaemia due to hypoparathyroidism. Affected individuals often have cognitive or learning difficulties such as ADHD and may suffer from psychiatric disorders in later life, especially schizophrenia. Deficiencies in renal and gastrointestinal function are common, along with feeding issues in babies. Arguably the most dangerous feature of this syndrome is immune and autoimmune deficiency, caused by a low T-cell count due to a hypoplastic or even completely absent thymus. …show more content…

The specific locus is indicated by the nomenclature: chromosome 22, long arm, position 1, band 1, sub-band 2. All affected individuals of this syndrome contain this faulty genotype but it is expressed with incomplete penetrance. As a result, each individual would rarely manifest all the above features and have a wildly different combination of those compared to others, even among relatives with hereditary 22q11.2DS. The mechanism by which the microdeletion causes all the associated features of the syndrome is unknown and is still an area undergoing …show more content…

At present it is treated symptomatically and therapeutically. It is important to identify which of the features that the individual with 22q11.2DS presents. Potentially serious defects such as cardiac abnormalities can be spotted early and be corrected with surgery. Similarly, a hypoplastic thymus can be replaced with a transplant from a donor to restore optimum immune function. If infections are still contracted, then antibiotics can be taken. Deficiencies such as hypocalcaemia can be counteracted by vitamin D and calcium supplements; renal dysfunction with dialysis; seizures with anti-seizure medication, and so forth. Parents of children affected with 22q11.2DS can be given advice from childhood development and psychology consultation to ensure that their learning and mental health needs are catered for in the

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