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22q11.2 Deletion Syndrome – Complications and Risk Factors

Complications and risk factors for 22q11.2 deletion syndrome include heart defects, cleft palate, hypoparathyroidism, thymus gland dysfunction, behavioral, learning, mental health problems. Deletion syndrome deprives fetus of sufficient supply of oxygenated blood.

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Complications and Risk Factors for 22q11.2 Deletion Syndrome

New York (USA), June 16, 2013

Risks and Complications of 22q11.2 Deletion Syndrome

Common problems include:

Heart Defects
Deletion syndrome deprives fetus of sufficient supply of oxygenated blood. It results in various deformities in your child like a single large vessel, truncus arteriosus, emanating from heart in place of two small vessels, hole, ventricular septal defect, between lower chambers of the heart, and four abnormal heart structures combining to form tetralogy of Fallot.

Cleft Palate
This causes a gap-like opening in mouth roof or palate. Other deformities of palate lead to problems in speech and swallowing.

Hypoparathyroidism
Parathyroid glands are oval-shaped glands just the size of a rice grain. They are four in number. They secrete and maintain parathyroid hormone (PTH) levels in body. This ensures proper calcium and phosphorous levels. Deletion syndrome leads to smaller-sized glands that secrete very little PTH. Hence, calcium and phosphorous levels in body fall.

Behavioral, Learning, and Mental Health Problems
Deletion syndrome affects mental health seriously resulting in disorders like autism, attention-deficit/hyperactivity disorder (ADHD), learning difficulties, and delay in speech. These disorders translate into depression, schizophrenia, and anxiety disorders later in life.

Thymus Gland Dysfunction
T cells are a type of white blood cell. These cells mature in thymus gland, situated beneath breastbone. Mature white blood cells fight away infections. This gland shrinks in size as you grow older and body immune system develops to protect you from infections. In children with deletion syndrome, thymus gland is either missing or too small in size. Hence, immune system is very poor and ineffective.

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