Deletion Syndrome Chan Woo Lee 22 q 11
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Deletion Syndrome Chan Woo Lee
• 22 q 11. 2 deletion syndrome • 1 p 36 deletion syndrome
22 q 11. 2 deletion syndrome • Cause: deletion in a small portion of chromosome 22
22 q 11. 2 deletion syndrome • Symptoms: Varies hugely Reason: depends on which portion of 22 q 11. 2 you delete That is why it has many names: Di. George syndrome (DGS), Di. George anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia
22 q 11. 2 deletion syndrome • • • The Symptoms: Congenital heart disease Palatal abnormalities Learning difficulties Unique facial features Immune deficiency
22 q 11. 2 deletion syndrome • The Symptoms (less common): • Hypocalcemia • Significant feeding and swallowing problems • Renal anomalies • Hearing loss • Etc.
22 q 11. 2 deletion syndrome • Autosomal dominant • Not really an inherited disease deletion=chromosomal mutation=random • 10% chance of inheritance
22 q 11. 2 deletion syndrome • 1 in 4000 people • Symptoms don’t show up during “newborns” except external symptoms
22 q 11. 2 deletion syndrome • NO CURE • Treat symptoms (i. e. For Hypothermia, inject calcium gluconate or if severe, Ca. Cl 2 )
1 p 36 deletion syndrome • Cause: a portion of Chromosome 1 is deleted
1 p 36 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)
1 p 36 deletion syndrome Internal Symptoms: • Learning disabilities (most cases) No ability to form words • Heart disease • Hearing problem • Breathing problem • Sight problem • Swallowing problem • Etc.
1 p 36 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
1 p 36 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)
1 p 36 deletion syndrome • Unfortunately, currently no cure • Treat symptoms - Learn sign language - Therapy - Medication to the problems
Works Cited • "22 q 11. 2 Deletion Syndrome. " - Genetics Home Reference. N. p. , n. d. Web. 04 June 2013. <http: //ghr. nlm. nih. gov/condition%3 D 22 q 112 -deletionsyndrome>. • Mc. Donald-Mc. Ginn, Donna M. "22 q 11. 2 Deletion Syndrome. " 22 q 11. 2 Deletion Syndrome. U. S. National Library of Medicine, 28 Feb. 2013. Web. 04 June 2013. <http: //www. ncbi. nlm. nih. gov/books/NBK 1523/>. • "1 p 36 Deletion Syndrome: Symptoms, Treatment, Prognosis, and Life Expectancy on Medicine. Net. com. " Medicine. Net. N. p. , n. d. Web. 04 June 2013. <http: //www. medicinenet. com/1 p 36_deletion_syndrome/arti cle. htm>.
