Deletion Syndrome Essay

Identify the disease process presented by the case study as well as the normal structure and function of the organ system and/or physiological process.

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

1. Review and analyze the laboratory data. What diagnosis is supported by these values? Give your rationale.

In conclusion, it my opinion, that regardless of a test observation any diagnosis should be done as carefully as possible. In the case of a child so

Doctors need a sure way to diagnose the disease before treatment or studies can be done. The diagnosis is an autopsy of brain tissue examined under a microscope. In addition, medical history,

Diagnosing the disease can be relatively simple, but this depends on accurate patient history and ones ability to recognize varied clinical signs and then perform diagnostic procedures. These diagnostic procedures may include antigen testing, x-rays, ultrasonography, angiography, a complete blood count, the Knott’s or Filter test, and in the worst case necropsy.

“Diagnosis is based on symptoms and the results of a biopsy of tissue from the small intestine or other

This condition is diagnosed based on an exam by your health care provider. Exams and tests will also be done to rule out serious physical health problems. These exams and tests will vary depending on your specific symptoms. They may include:

Tests done to diagnose are, as listed by Dr. Alan Lantzy, CBC to determine serum bilirubin levels, RBC count, and Coomb’s

Diagnosis is done with the help of diagnostic techniques like CT or magnetic resonance angiogram (MRA).

Every gene that causes a change or disorder has some reason for behaving the way it does. For example, the U.S. National Library of Medicine (2007) states that the COMT gene can cause what is known as 22q11.2 deletion syndrome. It occurs when a part of chromosome 22 is deleted, usually around 30 or 40 genes, including COMT. This leads to abnormal catechol-O-methyltransferase regulation, causing behavioral problems. People are also more likely to develop depression, anxiety, and schizophrenia, among other things. Even without 2q11.2 deletion syndrome, there is still potential risk for schizophrenia. The amino acid valine can replace methionine at position 158 (108 on shorter variations), resulting in changes in the stability of catechol-O-methyltransferase.

Deletion Syndrome is also called 22q. There are many parts that get affected by this, many parts of the body.. For example, one of the parts that get affected is the Immune System. Children with 22q can have partial immunodeficiency. Which means that their Immune System is weak, and not strong enough to fight infections.

Another study states, PWS affects one out of every 10,000 births to 30,000 people globally and affects both males and females of all races and ethnicities (“What is Prader-Willi Syndrome, n.d.”). In addition, people with PWS have a loss of active genes in the region chromosome 15. Furthermore, USA Prader-Willi Syndrome Association (USAPWSA) explains, “In PWS, these critical genes are either missing (deleted) from the father’s chromosome 15, functioning improperly because of an imprinting defect, or the entire chromosome 15 from the father is missing and both chromosome 15s come from the mother.” This complication happens randomly, either during reproductive or embryo development. For instance, our family has no history of obesity or these other complications, yet my niece Janelle has a behavior issue, developmental disorders, and has been diagnosed obese as well as having diabetes type 2 this

Monosomy 18q refers to a chromosomal disorder resulting from the distal deletions of the long arm of chromosome 18. Distal 18q deletion was described for the first time by de Grouchy et al, in1964) de Grouchy (and it is the most common chromosome 18 abnormality, including deletion 18q, deletion 18p, and ring 18 (feenstra (that altogether occurrerd in proximately 1/40000 live births (cody).

Jacobsen disorder: An extremely uncommon chromosomal issue including the nonattendance of a bit of chromosome 11q.acobsen disorder is caused by an erasure of hereditary material toward the finish of the long (q) arm of chromosome 11. The extent of the cancellation shifts among influenced individuals, yet the erased region quite often incorporates the tip of chromosome 11. The particular highlights of Jacobsen disorder identify with the loss of different qualities inside the erased locale. While the correct capacity of a portion of the qualities included is indistinct, they have all the earmarks of being basic for typical advancement of many parts of the body. As a rule, bigger cancellations cause more extreme signs and side effects than littler