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DiGeorge Syndrome

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Sandy Ruiz

on 1 March 2012

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Transcript of DiGeorge Syndrome

Sandy Ruiz
Anatomy 4th Hour
DiGeorge Syndrome DiGeorge syndrome is a disorder caused by a defect in chromosome 22, results in the poor development of several body systems. Area of heart affected by DiGeorge Syndrome and normal heart Affected children may have a variety of heart defects. It involves the aorta and the part of the heart from which the aorta develops. As with other organs affected in the DiGeorge Syndrome, heart defects vary from child to child. In some children, heart defects may be very mild or absent. Negatively Affects Heart Definition History DiGeorge syndrome now understood to be the chromosome 22q11.2 deletion syndrome was originally described as 3 syndromes found on 2 continents. Dr. DiGeorge described the first of these, DGS, in 1965. However, the description was not published until 1968, 2 years after the syndrome was named for him. DiGeorge syndrome is caused by the deletion of a portion of chromosome 22. Each person has two copies of chromosome 22, one inherited from each parent. This chromosome contains an estimated 500 to 800 genes.

If a person has DiGeorge 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 in DiGeorge syndrome is known as 22q11.2. A small number of people with DiGeorge syndrome have a shorter deletion in the same region of chromosome 22.

The deletion of genes from chromosome 22 usually occurs randomly in the father's sperm or in the mother's egg, or it may occur very early during fetal development. Therefore, the deletion is repeated in all or nearly all of the cells in the body as the fetus develops. Causes Symptoms Signs and symptoms of DiGeorge syndrome can vary significantly in type and severity. This variation depends 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. Bluish skin due to poor circulation of oxygen-rich blood (cyanosis)
Weakness or tiring easily
Failure to thrive
Failure to gain weight
Poor muscle tone
Shortness of breath
Twitching or spasms around the mouth, hands, arms or throat (tetany)
Frequent infections
Difficulty feeding
Delayed development, such as delays in rolling over, sitting up or other infant milestones
Delayed speech development
Learning delays or difficulties
A gap in the roof of the mouth (cleft palate) or other problems with the palate
Certain facial features, such as low-set ears, wide-set eyes or a narrow groove in the upper lip Signs and symptoms may include some combination of the following: Diagnosis A diagnosis of DiGeorge syndrome is based primarily on a laboratory test that can detect the deletion in chromosome 22. Your doctor will likely order such a test if a combination of medical problems or conditions suggests DiGeorge syndrome.
Because certain heart defects are commonly associated with DiGeorge syndrome, the presence of the heart defect itself may prompt your doctor to order a laboratory test for a chromosome 22 deletion.
In some cases, a child may have a combination of conditions that suggest DiGeorge syndrome, but the laboratory test doesn't indicate a deletion in chromosome 22. Although these cases present a diagnostic challenge, the coordination of care to address all of the medical, developmental or behavioral problems will likely be similar. Because DiGeorge syndrome can result in so many disorders, a number of specialists will likely be involved in diagnosing specific conditions, recommending treatments and providing care. This team will evolve as your child's needs change. Specialists in your care team may include the following professionals:
Children's health specialist (pediatrician)
Geneticist (expert in inherited disorders)
Heart specialist (cardiologist)
Immune system specialist (immunologist)
Infectious disease specialist
Hormone disorder specialist (endocrinologist)
Oral and maxillofacial surgeon, who specializes in surgery to correct such conditions as a cleft palate
Other surgical specialists
Occupational therapist, who specializes in therapy to help your child develop practical, everyday skills
Speech therapist
Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
Mental health professional, such as a pediatric psychologist or psychiatrist Health Care Team Prevention In some cases, DiGeorge syndrome may be passed from an affected parent to a child. If you're concerned about a family history of DiGeorge syndrome you can consult a doctor who specializes in genetic disorders (geneticist) or a genetic counselor for help in planning future pregnancies. Mayo Clinic Staff. "DiGeorge Syndrome." Mayo Clinic. Mayo Foundation for Medical Education and Research, 09 Aug. 2011. Web. 23 Feb. 2012. <http://www.mayoclinic.com/health/digeorge-syndrome/DS00998>. Bibliography "22q11.2 Deletion Syndrome Foundation." 22q11.2 Deletion Syndrome Foundation. Web. 23 Feb. 2012. <http://www.22q.org/overview.php>. "DiGeorge Syndrome – Symptoms, Diagnosis, Treatment, Prognosis, Life Expectancy, Pictures." DiGeorge Syndrome. Web. 23 Feb. 2012. <http://byebyedoctor.com/digeorge-syndrome/>. "The History of the Chromosome 22q11.2 Deletion." DiGeorge, Cleft Palate, Velopharyngeal Incompetence. Web. 23 Feb. 2012. <http://www.chop.edu/service/22q-and-you-center/about-chromosome-22q112-deletion/digeorge-cleft-palate-velopharyngeal-incompetence-velocardiofacial-syndrome.html>. "22q11.2 Deletion Syndrome." Http://www.memorialhealth.com/. June-July 2012. Web. 23 Feb. 2012. <http://www.memorialhealth.com/healthinfo/content.aspx?pageid=P01782>.
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