1. Deletion Syndrome
Chan Woo Lee

2. 22q11.2 deletion syndrome
1p36 deletion syndrome

3. 22q11.2 deletion syndrome
Cause: deletion in a small portion of chromosome 22

4. 22q11.2 deletion syndrome Symptoms: Varies hugely
Reason: depends on which portion of 22q11.2 you delete
That is why it has many names: DiGeorge syndrome (DGS), DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome,Strong syndrome, congenital thymic aplasia, and thymic hypoplasia

5. 22q11.2 deletion syndrome The Symptoms: Congenital heart disease
Palatal abnormalities
Learning difficulties
Unique facial features
Immune deficiency

6. 22q11.2 deletion syndrome The Symptoms (less common): Hypocalcemia
Significant feeding and swallowing problems
Renal anomalies
Hearing loss
Etc.

7. 22q11.2 deletion syndrome Autosomal dominant
Not really an inherited disease
deletion=chromosomal mutation
mutation=random
10% chance of inheritance

8. 22q11.2 deletion syndrome 1 in 4000 people
Symptoms don’t show up during “newborns”
except external
symptoms

9. 22q11.2 deletion syndrome NO CURE Treat symptoms
(i.e. For Hypothermia, inject calcium gluconate or if severe, CaCl2 )

11. 1p36 deletion syndrome
Cause: a portion of Chromosome 1 is deleted

12. 1p36 deletion syndrome Symptoms that you can see:
Small head that is short and wide
Abnormal facial features
Flat broad nose, ears that are rotated backward and shaped abnormally
Seizures
Behavioral problems
Genital malformation (F)

13. 1p36 deletion syndrome Internal Symptoms:
Learning disabilities (most cases)
No ability to form words
Heart disease
Hearing problem
Breathing problem
Sight problem
Swallowing problem
Etc.

14. 1p36 deletion syndrome Most cases no inheritance
Recently discovered, so not much information
Affects 1 in 5000~10000 newborns
Life expectancy:
Depends on which
portion of Chromosome 1
is deleted

15. 1p36 deletion syndrome How is it inherited?
A parent will have translocation in his or her Chromosome 1 (doesn’t do much).
When passed down, might lead to deletion of a portion of Chromosome 1.
(20% chance)

16. 1p36 deletion syndrome Unfortunately, currently no cure Treat symptoms
Learn sign language
Therapy
Medication to the problems

17. Works Cited
"22q11.2 Deletion Syndrome." - Genetics Home Reference. N.p., n.d. Web. 04 June <
McDonald-McGinn, Donna M. "22q11.2 Deletion Syndrome." 22q11.2 Deletion Syndrome. U.S. National Library of Medicine, 28 Feb Web. 04 June <
"1p36 Deletion Syndrome: Symptoms, Treatment, Prognosis, and Life Expectancy on MedicineNet.com." MedicineNet. N.p., n.d. Web. 04 June <