Beruflich Dokumente
Kultur Dokumente
Research Paper
Jay Peeler
Period 3
4/4/2017
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
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
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.
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
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,
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
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
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
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
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
Apr. 2017.
02 Apr. 2017.
Studies, Indications for Deletion Screening. 06 Jan. 2017. Web. 02 Apr. 2017.