22q DELETION SYNDROMEMUZAFFAR KHAN ALAM KHAN GROUP-3 STUDENT OF TSMU

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.

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

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

▪ 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

▪ Not an actual syndrome, rather a type of disorder

▪ Cardiac effects

▪ Abnormal facial features

▪ Thymic hypoplasia

▪ Cleft palate

▪ Hypocalcaemia

▪ 22 –refers to the chromosome

CATCH 22 Syndrome

CARDIAC ASSOCIATED FACTORS

TRUNCUS ARTERIOSUS

TETRALOGY OF FALLOT

ABNORMAL FACIES

THYMIC APLASIA or HYPOPLASIA

▪ Lack of embryonic development or underdevelopment od 3rd or 4th pharyngeal pouches

CLEFT LIP AND CLEFT PALATE

HYPOCALCEMIA OR HYPOPARATHYROIDISM

▪ Lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany (involuntary muscle contraction)

AUTOIMMUNITY

Higher 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.

DIAGNOSIS

▪ DiGeorge syndome was diagnosed when a person had the characteristics described above

▪ Laboratory diagnosis by FISH

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.

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.”

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.