Annotated Bibliography
Over the years, a series of diseases and disorder have been linked through a sort of genomic imprinting such as the sister syndromes, Angelman and Prader-Willi.
To begin with, Prader-Willi syndrome is a complex genetic condition that affects the neurological system, but can also disturb many other parts of the body. The disorder is characterized by distinctive developmental disabilities such as weak muscle tone, feeding difficulties, poor growth, and slow development. The disorder is commonly known all over the world and occurs in approximately one in every 10,000 to 29,000 (Yearwood, 2011). Some individuals the syndrome, Prader-Willi, develop an unquenchable appetite, leading to obesity and even type two diabetes. …show more content…
In order to do this, the study observed a fifteen year old patient who was admitted to an emergency hospital with symptoms of coughing and shortness of breath. The results of this study were concluded by several test. The first test was a laboratory test which was able to reveal that the patient had a glucose metabolism disorder and hypothyroidism. A gynecological exam was also used on the patient. The exam found normal anatomical conformation, the pituitary which controls hormone function became absent, puberty did not occur, sex hormones were nearly absent, and no there was no sign of compatible treatment. Although the purpose of the study was to go through the steps and set a diagnosis of Prader-Willi Syndrome, further research such as molecular diagnostic techniques in clinical practice would help determine more information about the …show more content…
The diagnosis of the fifteen children were based on clinical criteria that were collected before the patients were evaluated. Several evaluations were taken by concentrating on each of the patient’s history. Some examples of evaluations that were tested on the patients were general examination, a neurological examination, and a psychological examination. As a result of this study, all patients presented behavioral phenotypes and distinctive facial features. There was also delayed motormental development in all children with mental retardation. Most children had epileptic seizures because of syndrome called microdeletion which deletes chromosomes spanning in several
Over the years, a series of diseases and disorder have been linked through a sort of genomic imprinting such as the sister syndromes, Angelman and Prader-Willi.
To begin with, Prader-Willi syndrome is a complex genetic condition that affects the neurological system, but can also disturb many other parts of the body. The disorder is characterized by distinctive developmental disabilities such as weak muscle tone, feeding difficulties, poor growth, and slow development. The disorder is commonly known all over the world and occurs in approximately one in every 10,000 to 29,000 (Yearwood, 2011). Some individuals the syndrome, Prader-Willi, develop an unquenchable appetite, leading to obesity and even type two diabetes. …show more content…
In order to do this, the study observed a fifteen year old patient who was admitted to an emergency hospital with symptoms of coughing and shortness of breath. The results of this study were concluded by several test. The first test was a laboratory test which was able to reveal that the patient had a glucose metabolism disorder and hypothyroidism. A gynecological exam was also used on the patient. The exam found normal anatomical conformation, the pituitary which controls hormone function became absent, puberty did not occur, sex hormones were nearly absent, and no there was no sign of compatible treatment. Although the purpose of the study was to go through the steps and set a diagnosis of Prader-Willi Syndrome, further research such as molecular diagnostic techniques in clinical practice would help determine more information about the …show more content…
The diagnosis of the fifteen children were based on clinical criteria that were collected before the patients were evaluated. Several evaluations were taken by concentrating on each of the patient’s history. Some examples of evaluations that were tested on the patients were general examination, a neurological examination, and a psychological examination. As a result of this study, all patients presented behavioral phenotypes and distinctive facial features. There was also delayed motormental development in all children with mental retardation. Most children had epileptic seizures because of syndrome called microdeletion which deletes chromosomes spanning in several