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DiGeroge SYNDROME

DiGeroge SYNDROME. By SARAH WINDER. What is Chromosome 22?. The body normally has two chromosome 22, one from each parent to make a pair. The chromosome 22 is the second smallest human chromosome It makes up between 1.5 and 2% of total DNA.

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DiGeroge SYNDROME

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  1. DiGeroge SYNDROME By SARAH WINDER

  2. What is Chromosome 22? • The body normally has two chromosome 22, one from each parent to make a pair. • The chromosome 22 is the second smallest human chromosome • It makes up between 1.5 and 2% of total DNA. • Changes in structure or number of copies of it can cause heath problems.

  3. What DiGeorge syndrome? • DiGeroge syndrome is a rare disease present at birth The affects of the mutation happens in the germs cells. • It is also known as 22q11.2 deletion syndrome. • Some medical disorders related this this disease are: recurrent infection, heart defects, facial features, poor immune system, low levels of calcium in blood, cleft palate, and behavior disorders.

  4. What is the Cause? • DiGeorge is caused by a large deletion of the chromosome 22. The deletion is because of a error in recombination at meiosis. Meiosis is the process that makes germ cells and individualizes the offspring. • The area that is deleted is known as 22q11.2 • The deletion of 22q11.2 usually occurs in the father’s sperm or the mother’s egg or during early fetal development.

  5. Symptoms • Symptoms can vary from individual to individual, and usually appear at birth or early childhood. Some common symptoms are: • Bluish skin because of poor circulation of oxygen in blood. • Can’t gain weight • Difficulty feeding • Shortness of breath • Learning delays and speech development • Shortness of breath • Cleft palate and/or strange facial features • Twitching or spasms in hands, arms, or throat • It depends on the amount of genetic material lost and the DiGeorge gene has to be present.

  6. Population affected • DiGeorge can affect everyone but if your parent has it, it can be passed down to you. • You can get it before you are born in the father’s sperm or mother’s egg and before the birth.

  7. Testing? Screening? • They can do test in laboratory test to detect the deletion in chromosome 22. • Testing is done in some cases at the hospital and right after because DiGeorge can cause life threatening disorders that need to be resolved right away. • Testing can be also done after birth if you see symptoms of DiGeorge syndrome.

  8. Treatment? Gene Therapy? • Almost everyone who has it needs treatment from different specialists in different fields. • The specialists can diagnose certain conditions, recommend treatment, and provide care. • There is no cure for DiGeorge syndrome. They can do treatments for critical problems but mental or behavioral are harder to treat.

  9. Different treatments that can be done • Hyperparathyroidism: can be helped by calcium supplements, vitamin D supplements, and a low phosphorus diet • Limit thymus gland function: Thymus gland functions can involve frequent colds and ear infections. Most children who have this get regular vaccines and it gets better as you go on. • Severe thymus dysfunction: They treat them by a transplant of thymus tissue or special disease fighting blood cells. • Cleft palate: They can be surgically repaired • Heart defects: Surgery to repair the heart • Also you can get speech therapy, learning age-appropriate behaviors, or social skills.

  10. Concerns of testing and screening? • The concerns mostly are that not everyone is getting testing so they might need heart surgery or something life threatening that isn’t available to certain people. • You have to personally request to have testing done or the doctor has to get you tested so some might not know to and not get the testing. • Some states don’t require testing newborns to be tested. Mother and children with DiGeorge syndrome

  11. Prevention • DiGeroge syndrome can be passed from a parent to an offspring so if you know you or your spouse have it in your family history talk with a doctor who specializes in genetic disorders or a genetic counselor to help you plan for future pregnancies.

  12. Resources • http://ghr.nlm.nih.gov/chromosome/22 • http://www.chop.edu/service/22q-and-you-center/about-chromosome-22q112-deletion/ • http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome • http://www.ncbi.nlm.nih.gov/SCIENCE96/gene.cgi?DGS • http://www.mayoclinic.com/health/digeorge-syndrome/DS00998 • http://emedicine.medscape.com/article/886526-overview • http://www.todaystmj4.com/features/specialassignment/203525051.html

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