History of deletion syndrome
www.cbil.upenn.edu/VCFS/history.html Genetic home reference https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome deletion syndrome
My brother gets upset when he can't have the same foods, can't do normal life actives. Recently i've seen him more affected by it because he's older. It affect the family because our plans have to work around his daily feeding and med's schedules. My brother has a home nue 13 hours of the day to help the family have more of a normal life. It affects the society when he goes to school he'll need special accommodations , is permanently disabled (handicapped).
Just have a better understanding of this disorder and more accommodations for people with special needs. More education about this disorder.
First you would see a specificalist in diagnosing this problem. They would then have you give your blood or the childs blood that is the concern. They would send the sample to a specialize lab that deals with genetic disorders.
"In 1981 Dr. de la Chapelle in france, 1982 Richard kelly, m.d., and Eliane Zackai, M.D. from the children's hospital in philadelphia" (www.cbil.upenn.edu) they found out that patients with digeorge syndrome had a change in the chromosome 22. They continue everyday to learn more about genetic disorders. 25% of patients with digeorge syndrome had a visible deletion under the microscope. They decide to change the name many years ago, because many people seemed to have digeorge syndrome with this deletion. So, they change the name. Many with this disorder do not show a deletion under microscope and need to have a special blood test done.
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AuthorHi my name is Ashton and I wanted to write about this because my brother was diagnosed with microdeletion syndrome when he was 3 months old. I wanted to know more about this disorder and why he has it. |