Digeorge syndrome

DELETION IN CHROMOSOME NUMBER 22 CAUSES DIGEORGE SYNDROME. THYMIC APLASIA IS THE MAJOR CAUSE.

1. 22q DELETION SYNDROME MUZAFFAR KHAN ALAM KHAN GROUP-3 STUDENT OF TSMU

2. WHAT? Also known as DIGEORGE SYNDROME or CATCH 22 SYNDROME. It is a Primary immunodeficiency disease.[ Autosomal dominant] Disorder caused by a defect in chromosome 22 It results in the poor development of several body systems . The underlying cause is a shrunken or missing thymus gland.

3. Main associated factors of 22q11 deletion Microdeletions in chromosomal region 22q11.2 are associated with a 20 to 30-fold increased risk of SCHIZOPHRENIA Neuromuscular problems with closure ( velopharyngeal insufficiency), LEARNING DISABILITIES , mild differences in facial features, and recurrent INFECTIONS Infections are common in children ue to an absent or HYPOPLASTIC THYMUS HYPOTHYROIDISM and HYPOPARATHYROIDISM or THROMBOCYTOPENIA ( low platelet levels), and PSYCHIATRIC illnesses common late occurring feautures

4. Thymus Gland Specialization in the immune system Most active as a child and begins to atrophy in puberty as a result of increase in sex hormones Produce T-Lymphocytes but in DGS Resulting in low T-lymphocyte numbers and frequent infections

5. Contains 500 to 800 genes Genes codes for the development of the thymus gland are missing Region known as 22q11.2 Contains 30-40 genes

6. Not an actual syndrome, rather a type of disorder C ardiac effects A bnormal facial features T hymic hypoplasia C left palate H ypocalcaemia 22 –refers to the chromosome CATCH 22 Syndrome

7. CARDIAC ASSOCIATED FACTORS TRUNCUS ARTERIOSUS TETRALOGY OF FALLOT

8. ABNORMAL FACIES

9. THYMIC APLASIA or HYPOPLASIA Lack of embryonic development or underdevelopment od 3 rd or 4 th pharyngeal pouches

10. CLEFT LIP AND CLEFT PALATE

11. HYPOCALCEMIA OR HYPOPARATHYROIDISM Lead to low levels of calcium in the blood , often causing cramping and twitching of muscles or tetany (involuntary muscle contraction)

12. AUTOIMMUNITY H igher in rate than in the general population. Autoimmune disease occurs when the immune system inappropriately attacks its own body. It is not known why this happens in people with T-lymphocyte problems. The most common autoimmune diseases in DGS are idiopathic thrombocytopenia purpura (antibodies against platelets), autoimmune hemolytic anemia (antibodies against red blood cells), autoimmune arthritis, and autoimmune disease of the thyroid gland .

13. DIAGNOSIS DiGeorge syndome was diagnosed when a person had the characteristics described above Laboratory diagnosis by FISH

14. TREATMENT: No cure PREVENTION Regarding blood transfusion and immunization with live vaccines Thymus transplantation can be used to address absence of the thymus in the rare, so-called "complete" DiGeorge syndrome Bacterial infections are treated with antibiotics . Cardiac surgery is often required for congenital heart abnormalities . Hypoparathyroidism causing hypocalcaemia often requires lifelong vitamin D and calcium supplements.

15. Prognosis (lifestyle) This varies, many infants die from seizures, infections, or heart failure in the first year. One month morality rate is 55%, 6 month is 86% As far as life expectancy, they can live out a long, fairly average life depending on the severity and the proper type of care they receive. “Jacob, who suffers from the genetic disorder DiGeorge Syndrome, has overcome many obstacles, and he continues to play for Pitman Little League.”

16. BIBLIOGRAPHY Doctor Mary. " DiGeorge Syndrome – Symptoms, Diagnosis, Treatment, Prognosis, Life Expectancy, Pictures."  DiGeorge Syndrome . N.p ., n.d . Web. 13 Mar. 2014. " DiGeorge Syndrome."  Immune Deficiency Foundation . N.p ., n.d . Web. 13 Mar. 2014. " DiGeorge Syndrome."  Diagnosis at Mayo Clinic . N.p ., 9 Aug. 2011. Web. 13 Mar. 2014. " DiGeorge Syndrome."  Symptoms . N.p ., 9 Aug. 2011. Web. 13 Mar. 2014.