ipl-logo

Prader Willi Syndrome

2390 Words10 Pages
bulb-icon

Recommended: Prader willi syndrome karyotype

Pradar Willi and Angleman Syndrome Website Lecture Group 3

Background
The Chromosome
Chromosomes are located in the nucleus of cells. They are what make up the genetic information that allows all organisms to be unique. Chromosomes consist of Deoxyribonucleic acid that are bundled up tightly to form the larger chromosome structure. In human cells there are usually 46 chromosomes. 23 inherited from the father called paternal and 23 from the mother called maternal. On the 46 chromosomes there are alleles that code for certain traits. If some allelic traits are not expressed (imprinted) can cause genetic disorders like Prader-Willi or Angelman syndrome (2013, Klug).

Prader-Willi Syndrome and Angelman Syndrome
Prader-Will and Angelman are two …show more content…

Angelman and Prader-Willi syndromes are congenital diseases, present from birth, and are a result of chromosomal abnormalities. Two common proximal deletion breakpoint regions exist in both of the syndromes; this deletion mechanism is the same one that accounts for paternal and maternal deletions. PWS is caused by an absence of a paternal contribution in the chromosome 15q11.2–q13 region, while AS is due to an absence of a maternal contribution in the same region Leff et al. (1992) suggests that Prader-Willi syndrome is a result of missing genes on a maternal chromosome because of its association with parental gene deficiencies in chromosome 15q11.2–q13 region. Snrpn gene on a human chromosome 15q11–13 coding for a brain enrinched small nuclear ribonucleoprotein (snRNP)-associated polypeptide SmN was mapped to chromosome 7 in mouse (Leff et al, 1992).This experiment established that Snrpn is a maternally imprinted gene in mice. These studies, in combination with the associated human mapping studies showing that SNRPN maps in the Prader−Willi critical region, show the importance of the SNRPN gene, its involvement in PWS and suggest that one of the causes of PWS may be because of defects in mRNA processing. This experiment provided evidence that snRPN is an imprinted gene in a maternal chromosome in mice. Other human mapping studies that …show more content…

These compounds are thought be involved in the regulation of other RNA molecules and expression of signs and symptoms of Prader-Willi syndrome. People with Prader-Willi syndrome may present with an unusually fair skin and light-colored hair if they lose a gene called OCA2 on the region of chromosome 15. It codes for proteins involved in determination of skin, hair, and eyes pigmentation and does not result in other signs and symptoms of this disorder (Cassidy et al, 2000).
Angelman syndrome is triggered by a change that occurs on the same chromosome as Prader-Willi syndrome, that is chromosome 15(q11-q13) but a on a different specific region. According to Adams (2008), there are at least four known mechanisms that results in Angelman syndrome and these include chromosome deletion, paternal uniparental disomy (UPD), ubiquitin-protein ligase E3A (UBE3A) mutation, and imprinting center

Show More
Related
852 Words | 4 Pages

Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and

Read More
578 Words | 3 Pages

Inheritance by Dr. Sharon Moalem is an exceptional book. Dr. Moalem’s goal for writing this book is to convey a new idea of genetics and inheritance to the reader. In middle school and high school we were taught that our genetics comes from our parents and that they are fixed throughout our lifetime, but Dr. Sharon Moalem brings the idea that the environment may alter them. He states that the food we eat and the trauma we endure during life can imprint onto our genes. Dr. Moalem works with rare genetic disorders where he accumulates his knowledge from research to help treat his patients with changing some environmental factors in their lives.

Read More
1677 Words | 7 Pages

‘Your Inner Fish’ Scientists have questioned why human bodies are build the way they are for many years now. Fish paleontologist Neil Shubin set out to answer this question in his documentary ‘Your Inner Fish’. Shubin has looked at the bones in human hands and found many similarities with fins in the fish that he studies. This lead him to believe that fish are actually ancient ancestors of human beings.

Read More
733 Words | 3 Pages

Type 1, also known as NS1 and Male Turner syndrome, individuals are affected with most characteristics above. One added effect is the low number of blood platelets, which means blood clotting is very uncommon in these individuals. NS2 is closely related to NS1, except for the inheritance pattern. The last type of the condition is neurofibromatosis-Noonan syndrome, but it is really just an overlap of neurofibromatosis and NS1, however, it is only a chance occurrence, because "these conditions have two distinct gene locations, with no apparent overlap" (Gale

Read More
971 Words | 4 Pages

This is mostly called Trisomy 13 which is also called Patau syndrome which is an extra copy of the chromosome 13. This is a chromosomal condition associated with severe cerebral disability and physical abnormalities in many parts of the body. People that have or know someone with trisomy 13 often have heart defects, brain or vertebral irregularities, poorly developed eyes, extra digits , an opening in the lip which is known as cleft lip with or without an opening in the roof of the mouth that is a cleft palate, and weak muscle tone . Due to the actuality of several life-threatening medical complications, many babies with trisomy 13 pass away within their first days or weeks of their

Read More
879 Words | 4 Pages

This results in alternative splicing, which excises exon 20. This creates a frameshift mutation that results in premature termination codon and a truncated IKAP protein. In 4 individuals, heterozygous for FD, an additional missense mutation was found at exon 19, which results in the phosphorylation of the IKAP

Read More
1544 Words | 7 Pages

Brooke Martin Report #2 - Prader-Willi Syndrome Prader-Willi Syndrome, an imprinted disorder, is caused by the absence of paternal chromosome fifteen, at least in approximately seventy percent of all cases. In other unlikely cases, a child may have inherited two copies of chromosome fifteen from its mother, which is referred to as maternal uniparental disomy. Similarly, in vitro fertilisation may increase the risk of a mother birthing a child with an imprinted disorder. PWS can cause delayed development, low muscle strength and tone, stunted growth, difficulties feeding, obesity, infertility, and behavior problems.

Read More
728 Words | 3 Pages

a. The majority of the people diagnosed with Down Syndrome have it because of a faulty cell division called nondisjunction i. Nondisjunction happens with one of the pairs of the chromosomes fail to separate, resulting in the three 21 chromosomes ii. Total number of chromosomes equals 47 b. According to …. 3-4% of Children with Down Syndrome get it through gene translocation i. Gene translocation happens during cell division. This happens when part of the chromosome 21 breaks off and attaches to another

Read More
2273 Words | 10 Pages

Once those results were in, they told me that he had a chromosome abnormality. They explained that there was an extra piece on chromosome 22. His final diagnosis at that time was mild cerebral palsy, hearing loss and multiple

Read More
625 Words | 3 Pages

There has to be one copy of this defective gene in each parent in order for a child to have this disease. The defective gene is called cystic fibrosis transmembrane conductance regulator gene or CFTR gene. This gene controls

Read More
1974 Words | 8 Pages

One would test for these in the parents’ tears. If both parents have it, it is unlikely that couple will have a baby. The similarities in these diseases are that most contain a neurodegeneration in cells. This causes accumulated lipids to be caught in the endosomes. While some of these genetic diseases like Tay-Sachs only result in death, there are new theories that cell therapy could help in some like Gaucher disease.

Read More
1013 Words | 5 Pages

Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder.

Read More
506 Words | 3 Pages

Renewable Energy in the United States By 2014, Renewable energy in the United States reached to the 13.2 percent of the local generated electricity, and 11.2 percent of total generated energy in the United States. All of these types of renewable energy sources are produced, but in variant amounts. Also, the policy of renewable resources are varies from state to another. California is a leading state in this field. Approximately 20 percent of California's electricity power comes from renewable sources, this percentage far higher than the US average.

Read More
1273 Words | 6 Pages

Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays.

Read More
905 Words | 4 Pages

In most cases of Down syndrome, a child gets an extra chromosome 21 for a total of 47 chromosomes instead of 46. (Susan Skallerup) Research said it is this extra genetic material that causes the physical appearance and developmental delays associated with DS. Today no one knows for sure why DS happens and there's no way to prevent the chromosomal error that causes it. Scientists do know that women age 35 and older have a extremely higher risk of having a child with the condition.

Read More

More about Prader Willi Syndrome

Related Topics

Open Document