The Genetic Conditions of the Waardenburg Syndrome Essay

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A gene, paternal uniparental disomy, translocation, or mutation in the gene that activates UBE3A gene. PWS is a deletion or mutation on the paternal chromosome 15, uniparental disomy, or translocation. The loss of the SNORD116 gene on chromosome

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Hutchinson-Gilford progeria syndrome is a very rare genetic disorder that causes the affected individuals to appear older than what they are. Individuals are able to be affected by this disorder as earlier as a their first few months of life. There have been reported cases of infection seen in the fetus. Characteristics of progeria include limited growth such as short stature and low body weight, full body hair loss, and facial features that resemble an aged person. This genetic disorder can lead to other health complications such as degeneration of bone mass and tissue, scleroderma, kidney failure, loss of eye sight, atherosclerosis, and severe cardiovascular problems. There is a genetic test to diagnosis the disorder at a younger age called HGPS. Currently, there is no cure or treatment for the disease. However, patients can undergo certain surgeries such as

Schindler disease type III is intermediate in severity between types I and II. Affected individuals

From just a simple ova to a new born baby the journey to get there isn't always short and simple . They will evolve to one the most complex organisms on the planet. Although some have a successful journey, some undergo wrong turns. Some processes are disrupted. They create disorders and many are formed the first weeks of growth.

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with

As Elora progresses and continues to grow, her health must be constantly monitored. She should frequently visit an eye care professional, to ensure she does not develop other eye conditions. Visiting a healthcare professional, such as a pediatrician, will also be crucial to helping Elora maintain good health as children who suffer from aniridia can also go on to develop WAGR syndrome. WAGR syndrome is an acronym for a network of diseases that commonly occur together, this network includes Aniridia and a rare kidney cancer called Will’s tumor. Elora will have to adjust to living with her disorder as she

Because the genetic change is not an inherited disorder but rather due to random error during development, there is no specific race, gender, or regions in the world that are affected more than the other (Cassidy, 2012). The most common abnormality associated with PWS is due to the deletion of the paternal chromosome 15, which is found in approximately 70% of cases. Another possibility is due to maternal uniparental disomy which occurs in about 25% of cases. This is when the child does not inherit the paternal copy of chromosome 15, but instead receives two copies from the mother. The last 5% of cases is another form of genetic imprinting where the father’s chromosome 15 is present, but are not functional known as microdeletion (Griggs, 2015). Although research has narrowed down the region of the affected chromosome, the specific genes that are involved have yet to be found. There are also no solid indicators as to how they play into the development of PWS symptoms (Khor, 2016).

According to Medline Plus, there are six symptoms for bartter syndrome. The symptoms are increased frequency of urination, kidney stones, constipation, low blood pressure, growth failure, and muscle cramping and weakness. The etiology of this disease is present at birth. A person with bartter syndrome will lose too much sodium through urination due to a defect in the kidney and its ability to reabsorb sodium. With the loss of sodium in urine, causes increased levels of aldosterone. Aldosterone is a hormone that makes the kidneys collect too much potassium(Medline

Prader-Willi syndrome (PWS) is a complex genetic disorder caused by a chromosomal abnormality. It is characterized by mild to moderate hyperphagia, severe obesity, intellectual disabilities, and behavioral and psychiatric difficulties. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. It occurs in approximately one in 25,000 to 30,000 live births with no distinguishing sex or race association.

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.