22q11.2 deletion syndrome occurs in children due to genetic deletions on any of the two 22nd chromosomes. The actual cause or main factor responsible for this deletion is unclear. There are no specific guidelines for evaluation of 22q11.2 deletion syndrome.
<p><strong>Causes and Evaluation of 22q11.2 Deletion Syndrome</strong></p>
<p>New York (USA), June 16, 2013</p>
<p><strong>Causes of 22q11.2 Deletion Syndrome</strong></p>
<p>22q11.2 deletion syndrome occurs in children due to genetic deletions on any of the two 22nd chromosomes. The actual cause or main factor responsible for this deletion is unclear. Such deletion occurs when genetic material present in chromosomes does not combine effectively during formation of egg cells or sperm. As a result, around thirty-to-forty genes from chromosome 22 are absent. Although there is no clear definition of functions of these genes, some genes like COMT and TBX1 are mainly responsible for heart problems, cleft palate, mental and behavioral disorders.</p>
<p>Absence of specific genes in chromosome 22 directly affects development of third and fourth bronchial pouches or pharyngeal pouches. This deficiency affects more organs like parathyroid glands responsible for maintaining calcium levels in blood, mediastinal organ responsible for differentiation and induction of tolerance in T-cells, and thymus gland. This syndrome often leads to ill-formed genitals, urinary tract, or problems therein in children. In very rare cases, deletions on short arm of chromosome 10 causes 22q11.2 deletion syndrome.</p>
<p>Another cause for occurrence of 22q11.2 deletion syndrome is alcohol consumption by mother during pregnancy. This affects the growing fetus leading to various learning and behavioral problems and birth defects in children. Diabetes in mother causes low production of insulin by pancreas. This adversely affects growing fetus often leading to 22q11.2 deletion syndrome.</p>
<p><strong>Evaluation of 22q11.2 Deletion Syndrome</strong></p>
<p>There are no specific guidelines for evaluation of 22q11.2 deletion syndrome, as every case is individualistic and different. The best option is to follow advice of a medical geneticist. Initiate medical therapies and an Individualized Education Program (IEP) for your child. You can attend genetic counseling and discuss the condition to analyze risk of recurrence and reproductive options. There is a fifty percent chance of passing such mutation disorders in each pregnancy.</p>
<p>Most medical centers offer early intervention programs up to three years of age. Also, you should gather correct information to find out if your child has developed a new mutation or if it is an inherited family mutation.</p>
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