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Transcript of DiGeorgio Syndrome
This genetic disorder is caused by a defect in chromosome #22
People with DiGeorgio Syndrome are missing about 3 million base pairs on one copy of every chromosome 22 in each and every cell. In each cell the deleation occurs near the middle of the chromosome at a location designated at q11.2
What causes the disorder?
This disorder is caused by abnormal migration and development of certain cells and tissues during the facial development.
How is it inherited?
The deletion of genes
What kind of medical assistance will the affected child need?
Some children affected will not survive the first year of their lives, but if they do they live the lifespan of a normal human. If the person lives into adulthood, they will need learning assistance and extra health care.
Could this disorder have been prevented?
No, you can not stop a child from getting DiGeorgio Syndrome. (however you can see a geneticist to see the probability your child will have the syndrome)
Thank you for watching
Chromosome 22 is the second smallest human chromosome spanning more than 51 milion DNA building blocks and representing between 1.5 and 2 percent of the total DNA in cells.
Other Names for DiGeorgio Syndrome
It is sometimes called 22.q11.2 deletion syndrome.
(Before the discovery of the chromosome 22 defect it was called DiGeorgio Syndrome, Veolocardiofacial Syndrome, Shprintzen Syndrome, Contruneal Anomaly Face Syndrome (CTAF), Sedlackova Syndrome, and
Are there Prenatal tests for this disorder?
The symptoms for DiGeorgio Syndrome vary in type and severity depending on what body systems are affected by the syndrome.
Also, symptoms may appear at birth or not until later in infancy or early childhood.
List of symptoms
Bluish skin (due to the poor circulation of oxygen rich blood as a result of a separate heart defect)
twitching or spasms around the mouth, hands, arm, or throat
Certain facial features such as an underdeveloped chin, low ears, wide-set eyes,or narrow grove in the upper lip
Gap in the roof of the mouth (cleft plate) or other problems with the plate
Difficulty feeding and gastrointestinal problems
Failure to gain weight
Poor muscle tone
Delayed development such as delays on rolling over, sitting up, and other infant milestones
Delayed speech development
Learning delays or difficulties and behavior problems
Thank You For Watching
I hope you enjoyed watching my presentation about DiGeorgio Syndrome.
Does anyone have any questions?
Yes there are ways to see if the baby has the syndrome by seeing if it has the symptoms.
The deletion of genes from chromosome 22 usually occurs as a random event in the fathers sperm or in the mothers egg or it may occur in early fetal development. The syndrome isn't always inherited from a parent who also has DiGeorge Syndrome.
How many people are affected and is it contagious?
1 in 4000 people have DiGeorgio syndrome (more may have it ,but just not think they do because they arent aware of their symptoms)
Also you can not catch this from anyone who has the syndrome.
Are there treatments or cures?
At this point, there is no cure, but there are some treatments for severe symptoms.
For example, if one of your symptoms was a malfunctioning heart they could give you a heart transplant. If you had slowed learning, you could get extra help at a special school.
Can an affected individual have a child?
They can have a child, but there is a 50% chance the child will inherit the syndrome
"DiGeorgio Syndrome" Mayo Clinic n.d. Web 27 March 2016
"Chromosome 22" ghr.nlm.nih.gov. n.d. Web 27 March 2016
"DiGeorgio Syndrome" Rochester n.d. Web 27 March 2016
"Digeorgio Syndrome" Primary Immune n.d. Web 2 April 2016