Deletion Of Prader-Willi Syndrome

Submitted By mendozaa94
Words: 1764
Pages: 8
Open Document
Mendoza, Ashley
Date submitted: 3/3/2013
Rough draft
Going Public We get two copies of each gene, one from the mother and the other from the father. What happened if one of the soon to become parent has a gene that was switched off? That is something that many people who are planning to have a baby do not think about. It is possible to have a deletion of a chromosome. Chromosomes get passed down, so if there is a deletion in the parent it may cause a syndrome in the child. The deletion of chromosome 15 can cause one of two syndromes, Prader-Willi or Angleman syndrome. These are two completely different syndromes that are caused by the same deletion of chromosome 15. They are known as the sister disorders because of the fact they are both the result of the absence of expression from one of the parents. Which syndrome the child is born with is depending on from whom the deletion came from. If the deletion of the chromosome is from the father the infant will be born with Pradetr-Willi syndrome. If the deletion is from the mother the infant will be born with Angleman syndrome. These syndromes can affect both male and female. Prader-willi syndrome and Angleman syndrome are different in many of ways. People affected by Prader-Willi syndrome generally are disconnected and have a temper along with obsessive-compulsive behaviors. People affected by Angleman syndrome are opposite; they are extremely happy and are always laughing. Prader-Willi syndrome is a genetically resulted disorder due to chromosome 15 missing. These genes are expressed when inherited from the father. It is presented at birth. It is characterized by excessive floppiness at birth and some physical, behavioral and development irregularities that become noticeable throughout growth. With having Prader-Willi syndrome there are three concerning parts. First, there is the developmental delay also some intellectual and functional impairment, causing learning and behavioral problems. Second, there is a tendency to overeat leading to early childhood obesity. Obesity is a significant health problem. Obesity can become life threatening. Over eating begins at about after the first year of age. Third, there is a tendency to have behavior patterns or psychiatric illness that can have a negative affect on the person’s quality of life. People who have this syndrome have a specific facial appearance, and because of the growing deficiency caused by Prader-Willi they have a short stature, small hands, and feet. Being pregnant with a child with Prader-Willi syndrome is a one and 15000 change. This syndrome is a problem in both males and females. Because this syndrome causes poor suck reflex, babies born with this syndrome typically cannot breast feed and my require tube feeding. Patients usually do not have a family history of the condition. The genetic changes occur randomly, the missing chromosome 15 that comes from the father causes Prader-willi syndrome. There is also another syndrome that is caused by missing chromosome 15 but it’s when the mother pass it down causing the child to be born with angleman syndrome. Angelman syndrome also known as happy puppet syndrome is a disorder characterized by intellectual disability, lack of speech, with a lot of laughter or smiling, also some jerky movements for example someone with this syndrome may flap there hands a lot. Infants with this syndrome seem to be normal at birth. Angelman syndrome usually is not detected until about 6 to 12 months of age when the parent starts noticing developmental delays. 80% of people diagnose with this have seizures, seizures may occur in the child as early as 2 to 3 years of age. Both males and females can be diagnosed with this syndrome and the largest portions of people with this syndrome are of the white race. Although living with Angleman syndrome may be difficult because of all the downfall people with this syndrome tend to live a normal life span. This syndrome affects around 1 in
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