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DiGeorge Syndrome

Research Paper

Jay Peeler
Period 3
4/4/2017

Velocardiofacial syndrome, Shprintzen syndrome, CATCH22, and 22q11.2 deletion

syndrome are all names for DiGeorge Syndrome, which is a deletion/defect of the 22nd
Chromosome. Affecting less than 200,000 people per year in the United States makes this

disease considered rare.

Discovered in the mid 1960’s by Angelo DiGeorge, an Italian American Physician and

pediatric endocrinologist, Mr.Angelo found that a particular group of people contained a similar

symptoms to one another. He names these groups of syndromes DiGeorge Syndrome after

himself. Then in the 1970’s, Robert Shprintzen, a speech pathologist, also noticed that there was

a group of people with similar syndromes to one another. He renamed these group of symptoms

velo-cardio-facial syndrome, but it was also known as Shprintzen syndrome. Lastly, in the

1980’s the technology was finally invented to be able to identify the hidden problem with the

chromosome. Statistics show that 90% of the people who had been diagnosed with

DiGeorge/Shprintzen syndrome had a deletion on the region of 22q11. They concluded that

DiGeorge and Shprintzen were actually the same syndrome, and is now mostly referred to as

22q11 or DiGeorge Syndrome.

DiGeorge Syndrome affects the development of several body parts, more commonly

causing heart defects, a cleft palate, a poor immune system, delayed development with emotional

and behavioral problems, and complications related to low calcium in the blood. The amount of

symptoms that a person may experience from having this disease can vary greatly. Due to this,

people who have DiGeorge Syndrome need help from people in many different specialist fields.

Some of these specialist include, according to mayoclinic.com, “a Pediatrician, Geneticist,

Cardiologist, Immunologist, Infectious disease specialist, Endocrinologist, oral and maxillofacial

surgeon, cardiovascular surgeon, other surgical specialists, occupational therapist, speech

therapist, developmental therapist, and Mental health professional, such as a pediatric


psychologist or psychiatrist” This is an extremely long list, but even though there are many

doctors that may be needed for this syndrome, many people live long and productive lives.

The main cause of 22q11.2 is, as stated before, a deletion or defect of the 22nd

chromosome. The reason this usually happens is usually because of a weird event happening in

the mother’s egg or the male’s sperm, but it may also happen during early fetal development. It

is very rare, but not impossible for the child to have inherited it from a parent that had DiGeorge

syndrome, whether they experienced symptoms or not. According to a study done in 1999, 6% of

kids who have DiGeorge syndrome obtained it from a parent, and the other 94% had a new

deletion in their chromosomes.

Identifying if a child has DiGeorge Syndrome can occur in many different ways, however

it must be done through some testing. Emedcines website states some of these tests include,

“array comparative genomic hybridization (aCGH), fluorescent in situ hybridization (FISH),

TBX1 gene sequencing or TBX1 deletion/duplication analysis, and multiplex ligation-dependent

probe amplification (MLPA).” With these tests, doctors can now detect if the 22nd chromosome

has a problem. However, there are many other tests, this being only the genetic tests. Some other

tests include imaging tests, T-cell count, and function tests. Doctors can decide if they want to

conduct testing on a child if they are showing common traits of DiGeorge Syndrome or may be

having heart defects.

Once someone is diagnosed with DiGeorge Syndrome, there many things that someone

can do to help with symptoms. However, keep in mind that this is an incurable disease and you

can only help with the symptoms, you can not fully cure DiGeorge Syndrome, yet. Other than

seeing specialists, treatments include limited thymus gland function, calcium and vitamin D

supplements for Hypoparathyroidism, surgery for cleft palate, transplants of the thymus tissue
and/or specialized cells for bone marrow and disease-fighting blood cells to help severe thymus

dysfunction, therapy for overall development, surgery for heart defects, and treatment for mental

health care sure as ADHD, depression, and schizophrenia. Some of the other symptoms do not

have a fix, and must be monitored frequently.

Parents who have a child with DiGeorge may have a hard time coping with the fact that

their child will have problems all of their life. Organizations such as Velo-Cardio-Facial

Syndrome Educational Foundation, C22C, The 22q Family Foundation, The 22q and You

Centre, and so many more help parents with coping and also provide educational support and

other important life support to the families.

DiGeorge Syndrome is non preventable, meaning there is no way to guarantee that a

child will not get DiGeorge Syndrome if the parents can pass it on. However, even though this is

true, there are some things parents can do to help lower the risk of having a child with DiGeorge

Syndrome. If a family has a concern or worry that a future child will obtain DiGeorge syndrome,

or the family has had a child with DiGeorge Syndrome and wants to keep another from getting

the faulty chromosome, they may consult a doctor, such as a geneticist or genetic counselor to

plan future pregnancies.

In conclusion, DiGeorge Syndrome is a deletion/deformation of the 22nd chromosome,

affecting many things in the host. While it may not be a life or death syndrome, it is still very

serious and affects everyone who contains it differently. Overall, it can be treated too have

symptoms reduced, but is incurable and people will experience symptoms all their life. DiGeorge

Syndrome, while it may not be as well known as down syndrome and muscle dystrophy, can still

be acknowledged and you can always give support to those who have it.
Works Cited

"DiGeorge Syndrome." DiGeorge Syndrome | Children's Hospital of Wisconsin. Web. 02

Apr. 2017.

"DiGeorge Syndrome." Encyclopedia of Children's Health. Web. 02 Apr. 2017.

"DiGeorge Syndrome." Mayo Clinic. Web. 02 Apr. 2017.

"DiGeorge Syndrome - Natural Living Center." DiGeorge Syndrome - Natural Living

Center. Web. 02 Apr. 2017.

"DiGeorge Syndrome." Practice Essentials, Background, Pathophysiology. 06 Jan. 2017. Web.

02 Apr. 2017.

"DiGeorge Syndrome Workup: Approach Considerations, Genetic Studies, Indications for

Deletion Screening." DiGeorge Syndrome Workup: Approach Considerations, Genetic

Studies, Indications for Deletion Screening. 06 Jan. 2017. Web. 02 Apr. 2017.

"Presentation Name." Emaze Presentations. Web. 02 Apr. 2017.