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Deletion Syndrome

Deletion Syndrome. Chan Woo Lee. 22q11.2 deletion syndrome 1p36 deletion syndrome. 22q11.2 deletion syndrome. Cause: deletion in a small portion of chromosome 22. 22q11.2 deletion syndrome. Symptoms: Varies hugely Reason: depends on which portion of 22q11.2 you delete

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Deletion Syndrome

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  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)

  10. 1p36 deletion syndrome • Cause: a portion of Chromosome 1 is deleted

  11. 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)

  12. 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.

  13. 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

  14. 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)

  15. 1p36 deletion syndrome • Unfortunately, currently no cure • Treat symptoms • Learn sign language • Therapy • Medication to the problems

  16. Works Cited • "22q11.2 Deletion Syndrome." - Genetics Home Reference. N.p., n.d. Web. 04 June 2013. <http://ghr.nlm.nih.gov/condition%3D22q112-deletion-syndrome>. • McDonald-McGinn, Donna M. "22q11.2 Deletion Syndrome." 22q11.2 Deletion Syndrome. U.S. National Library of Medicine, 28 Feb. 2013. Web. 04 June 2013. <http://www.ncbi.nlm.nih.gov/books/NBK1523/>. • "1p36 Deletion Syndrome: Symptoms, Treatment, Prognosis, and Life Expectancy on MedicineNet.com." MedicineNet. N.p., n.d. Web. 04 June 2013. <http://www.medicinenet.com/1p36_deletion_syndrome/article.htm>.

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