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 OFTSMU

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
▪ ProduceT-Lymphocytes but in
DGS
▪ Resulting in lowT-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
▪ Cardiac effects
▪ Abnormal facial features
▪ Thymic hypoplasia
▪ Cleft palate
▪ Hypocalcaemia
▪ 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 3rd or
4th 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
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
withT-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.