DiGeorge syndrome (22q11.2 deletion syndrome)
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DiGeorge syndrome, more accurately known by a broader term — 22q11.2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems.
The term 22q11.2 deletion syndrome covers terms once thought to be separate conditions, including DiGeorge syndrome, velocardiofacial syndrome and other disorders that have the same genetic cause, though features may vary slightly.
Medical problems commonly associated with 22q11.2 deletion syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems.
The number and severity of symptoms associated with 22q11.2 deletion syndrome vary. However, almost everyone with this syndrome needs treatment from specialists in a variety of fields.
Signs and symptoms of DiGeorge syndrome (22q11.2 deletion syndrome) can vary in type and severity, depending on what body systems are affected and how severe the defects are. Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood.
Signs and symptoms may include some combination of the following:
Other conditions may cause signs and symptoms similar to 22q11.2 deletion syndrome. So it’s important to get an accurate and prompt diagnosis if your child shows any signs or symptoms listed above.
Doctors may suspect 22q11.2 deletion syndrome:
Each person has two copies of chromosome 22, one inherited from each parent. If a person has DiGeorge syndrome (22q11.2 deletion syndrome), one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes. Many of these genes haven’t been clearly identified and aren’t well-understood. The region of chromosome 22 that’s deleted is known as 22q11.2.
The deletion of genes from chromosome 22 usually occurs as a random event in the father’s sperm or in the mother’s egg, or it may occur early during fetal development. Rarely, the deletion is an inherited condition passed to a child from a parent who also has deletions in chromosome 22 but may or may not have symptoms.
A ventricular septal defect is an abnormal opening (hole) in the heart that forms between the heart’s lower pumping chambers (ventricles), as shown in the heart on the right. This allows oxygen-rich and oxygen-poor blood to mix. A normal heart is shown on the left.
If you or your baby has truncus arteriosus, one large vessel leads out of the heart, instead of two separate vessels, and there’s a hole in the wall between the ventricles (ventricular septal defect). The oxygen-rich blood (red) and the oxygen-poor blood (blue) mix together, resulting in blood with an insufficient oxygen supply (purple) for the body.
Tetralogy of Fallot is a combination of four congenital abnormalities. The four defects include a ventricular septal defect (VSD), pulmonary valve stenosis, a misplaced aorta and a thickened right ventricular wall (right ventricular hypertrophy). They usually result in an insufficient amount of oxygenated blood reaching the body.
The parathyroid glands, which lie behind the thyroid, manufacture the parathyroid hormone, which plays a role in regulating your body’s levels of the minerals calcium and phosphorus.
A cleft palate is an opening or split in the roof of the mouth that occurs when the tissue doesn’t fuse together during development in the womb. A cleft palate often includes a split (cleft) in the upper lip (cleft lip) but can occur without affecting the lip.
Your body’s lymphatic system is part of your immune system, which protects you against infection and disease. The lymphatic system includes your spleen, thymus, lymph nodes and lymph channels, as well as your tonsils and adenoids.
The portions of chromosome 22 deleted in DiGeorge syndrome (22q11.2 deletion syndrome) play a role in the development of a number of body systems. As a result, the disorder can cause several errors during fetal development. Common problems that occur with 22q11.2 deletion syndrome include:
In some cases, DiGeorge syndrome (22q11.2 deletion syndrome) may be passed from an affected parent to a child. If you’re concerned about a family history of 22q11.2 deletion syndrome, or if you already have a child with the syndrome, you may want to consult a doctor who specializes in genetic disorders (geneticist) or a genetic counselor for help in planning future pregnancies.
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DiGeorge syndrome (22q11.2 deletion syndrome)
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