Genetic Disorders Booklet: Polydactyly Case Study Answers

Thursday, February 3, 2022 2:07:36 AM

Genetic Disorders Booklet: Polydactyly Case Study Answers



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Many great things can be accomplished through genetic engineering, but scientific progress is being halted by the opposition 's use of arguments with questionable logic. Most notably is their fear of designer babies. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features.

Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking. It can also be passed down if one of the parents have the disorder. Differentiate between recessive and dominant disorder? In males who have only one X chromosome , one genetic change in each cell is sufficient to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females because in females who have two X chromosomes , a genetic change would have to occur on both copies of the chromosome to cause the disorder.

A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. An abnormal gene transmitted as an autosomal recessive trait from parent to child causes this syndrome. Both parents must be carriers of the gene to produce a child that inherits two defective genes Lanza, Children that inherit only one of the abnormal genes will be a carrier and unlikely to exhibit symptoms of the disease.

The gene with this defect is on a chromosome that is not a determinant in the sex of the child, and therefore BSS can affect both males and females equally. Dystrophin, since it is a protein is responsible for muscle strength. Without Dystrophin the muscles will become weak. Females are the carrier of the disease, and it is passed through DNA on the recessive X chromosome. The female carrier may not have any signs or symptoms herself or have slight symptoms, but will still carry the disease and may pass it on to her male children.

It is not passed on to females because females receive one X chromosome from their mother and one X chromosome from their father. Some believe that the virus that is being vaccinated against is alive in the vaccines, while others just have personal beliefs. Parents will let their unvaccinated child be treated for a brain infection, that was caused by a preventable disease, with weeks of IV antibiotics, yet still say no to vaccinations. If a parent did not provide their child with the right medical attention for a broken bone, child protective services would most likely apprehend the child and the parent could be charged with negligence.

Many people have double standards when it comes to vaccinations and medical treatment. There is a very common misconception that vaccinations are optional. But what causes this disease? The production of the thick and sticky mucus occurs because of a mutations in a gene on chromosome 7. This mutation causes your body to make a thick and sticky mucus, instead of the thin and watery mucus that your body needs to function efficiently and healthy. For example, if someone has sickle cell trait and his partner has sickle cell trait they may produce a child with sickle cell disease. People may not even realize that have sickle cell trait since they exhibit no symptoms F. As a result, it is important that people get tested to see if they carry the trait.

So who does it affect well many people believe that this disease only affects people of African descent but, that is not true. Some genetic disorders are transmitted or inherited from parents to their offspring while others are caused by acquired mutation or changes in an already existing gene. She loves playing with friends, building with Legos, watching TV shows or movies on the iPad, and helping her mom in the kitchen. Lauren also loves to sing and dance.

She has played soccer for a couple of years but recently decided to stop so she can start taking dance classes. He also had one pupil that was always smaller than the other. Tyler underwent surgery at 4 months of age to remove his extra fingers and toes. He was struggling socially and he had a very hard time following directions and doing the work at school. However, when Tyler was 7 years old, his youngest sister, Lauren, was born and she also had extra fingers. Could it be Bardet Biedl Syndrome? The family continued searching for answers for Tyler and Lauren and one day, 2 years after Lauren had been born, Amy heard about another child who had been born with an extra toe.

This child had Bardet Biedl Syndrome. She quickly recognized that many of the features associated with BBS could also be affecting her children. This was the first time she learned that BBS causes vision loss, sometimes caused by Retinitis Pigmentosa, affecting the retina at the back of the eye. Through this study, the children were clinically diagnosed with BBS and in genetic testing confirmed the diagnosis. Having that definitive answer silenced any doubt we had about whether or not the diagnosis had been correct. Being able to connect with other parents and patients affected by the same rare disorder provided a strong support system for the family and a way to advocate for advancements.

We hear from doctors who are treating people with BBS and we also have the opportunity to connect with other people who are living with the syndrome. This kind of planning is one reason why early diagnosis is so important t families and patients with rare conditions. We hope that they will be able to live independently at some point and have jobs. With continued weight management and diligence in their learning they should be able to live happy fulfilling lives. Tyler and Lauren could later develop some of the other features and complications associated with BBS. The family feels fortunate that they are not experiencing any organ problems at the time of this writing.

Developing treatments and eventually curing BBS relies on continued research, advocacy and leveraging new technologies. Early diagnosis is a critical first step in accelerating advancements for patients with these conditions. FDNA developed Face2Gene to aid in the diagnostic process and launched the Year of Discovery initiative to gather new and better information on all rare genetic syndromes, including Bardet Biedl Syndrome. Together, we can give hope to patients and families affected by rare disease and end the diagnostic odyssey. If more doctors knew about this rare syndrome or if genetic testing was more available it would save families years and years of searching. The personal information will only be accessible to your doctor but the de-identified data may help others who are battling a rare disease.

Click here for more information. Healthcare Professionals: Do you have cases to upload that can help Face2Gene recognize eye disorders and accelerate advancements? Upload them through the app or at Face2Gene.

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