Trisomy 13 or Patau Syndrome is a genetic disease in which the person has 3 copies of the genetic material from chromosome 13 instead of having 2 copies. It occurs when the extra DNA from chromosome 13 appears in some or all of the body’s cells. The treatment of this disorder differs from child to child and depends on the symptoms.
Trisomy 13 (Patau Syndrome)
Background (description of the disease, its symptoms, and impacted population)
Klaus Patau was a German-American geneticist, and together with his research colleagues, described the condition in 1960. The syndrome’s clinical appearances were described in 1657 for the first time by Erasmus Bartholin, but he did not know its aetiology (Patient Information, n.d.). Trisomy 13 is a chromosomal condition linked with severe physical and intellectual disability. Those suffering from Trisomy usually have spinal or brain abnormalities, heart defects and smaller, not fully developed eyes -a condition referred to as microphthalmia, cleft lip, an extra toe or finger and hypotonia. Because of the nature of the life-threatening problems that accompany the condition, most of the children who have the condition succumb to it in the first few weeks of their lives. Only 5% to 10% of the children with the condition manage to live to see their first birth day (Genetics Home Reference, 2017).
Most Trisomy 13 cases are as a result of having 3 chromosome 13 copies in the body’s cells instead of the normal 2 copies. This leads to a disruption of the body’s development and so leads to symptoms that characterize trisomy 13. Another instance when one can develop trisomy 13 is when a portion of chromosome 13 attaches to another chromosome as reproductive cells develop in the early development stages of the fetus. Those affected in such a way possess the usual 2 copies of chromosome 13, but also have an extra chromosome 13 attached to one of the chromosomes. In some instances, just a portion of Chromosome 13 is available in 3 copies. The signs and symptoms for such cases are often different from those observed where there is full trisomy 13 (GHR, 2017).
The occurrence of trisomy 13 is one child for every 16,000 newborns. While trisomy 13 can occur to a child conceived by a woman of any age, the risk of a case increases with the age of the woman (GHR, 2017).
Incidence of Disease
Platau syndrome is the third most frequently occurring chromosomopathy. One of 16,000 new borns carry trisomy 13 and 80% of the cases involves a fresh mutation with myeosis non-separation from the mother. The forms of translocation aren’t rare. A newborn is likely to record polydactilia, cheilognatopalatoshisis, micrphthalmia, dolihocephalia and microcephalia. The brain is also likely to record some ultrasound changes (Misanovic, Jonuzi, Bisacevic & Vegar, 2002).
A big number of fetuses with the condition are likely to die in the uterus or be stillborn. Of the children born alive, just 20% live past the first month and only 5% live past 6 months (Fleischer et al., 2011).
A family or personal history of bearing children with the condition is a risk factor. Risk also increases with maternal age, but not to the extent that it does with Down’s Syndrome or Edwards’ Syndrome (PI, n.d.).
Maternal Age: meiotic non-disjunction’s occurrence of the failure of the proper separation of chromosomes during the process of meiosis increases with maternal age. Older women therefore record higher risk of giving birth to children with the condition. The average age of mothers who bear children suffering from trisomy 13 is 31 (Natural Standard, 2011).
Genetic Carriers: people with translocations where chromosome 13 is involved may bear children suffering from trisomy 13. Studies have indicated that parental origin could be a factor determining the risk of one inheriting the responsible translocation trisomies. There is a lower likelihood of inheriting paternal translocations than maternal translocations.
Predisposition to Meiotic Non-Disjunction: It has been reported that some mothers may have a higher predisposition to meiotic non-disjunction. They therefore record greater risk of bearing a child with trisomies. While the risk of mothers who had previously bore children with trisomy 21 is low, it is statistically significant. Trisomy 13 and trisomy 21 occurrences in one family have been reported (NS, 2011).
Other Factors: Gender and race factors have been reported to determine longevity of trisomy 13 patients. Females who are non-white happen to have longer than median survival time. It has also been reported that gestational obesity as well as maternal obesity may lead to an increase of the risk of developing trisomy 13 but the claims are not conclusively backed with evidence (NS, 2011).
Treatments or Management
A diagnosis of the condition can be done before the birth of the baby by amniocentesis through the study of chromosomes of amniotic cells. The parents of infants having trisomy 13 resulting from translocation should be offered counseling and genetic testing. This leads to the risk of them bearing a baby with the condition reducing in the future (Haldeman-Englert, 2011, 2011).
Diagnosis of the condition is pegged on the sufferer’s exhibited signs and symptoms. Infants with the condition may have just one umbilical artery at birth (Prime Health Center, 2013). In several instances, such parents show signs of heart defects, such as:
â€¢ Venticular septal defect
â€¢ Abnormal placement of the heart towards the right side of the chest
â€¢ Atrial septal defect
â€¢ Patent ductus arteriosus (PHC, 2013).
Using ultrasound or gastrointestinal x-rays will reveal the internal organs’ rotation of the infants. Echocardiograms can be very useful because of the high instances of cardiac defects relating to the disorder (PHC, 2013).
CT and MRI scans of the head can reveal problems existing in the structure of the brain. Such scans can show problems such as Holoprosencephaly where the two sides of an infant’s brain fusion. Besides these examinations, a study of chromosomes can help medics in arriving at a definitive diagnosis of Platau Syndrome and distinguishing it from partial or full forms of the syndrome as well as Mosaicism (PHC, 2013).
Known Complications with Diagnosis
Several serious complications are associated with Platau Syndrome. Less than 20% of infants with the condition live past the first month. Just 5% to 10% of sufferers live past the first year of life. In a study sampling 21 people with the condition, just one of the patients managed to live to be 21 years old while the remaining only lived past their fifth birthday (PHC, 2013).
The main complications of the condition involve the likelihood of developing birth defects and older children developing certain disabilities. Further, older children may develop problems with their vision and hearing problems. The high mortality rate is linked to the difficulties the sufferers face with breathing because of apnea or undeveloped lungs. Also, risk of mortality increase as the patient develops feeding problems and gastroesophagal reflux. The defects in the heart are often not serious enough to pose a major threat to a newborn (Baby Med, n.d.).
Prehospital (Emergency Medical Services) Considerations
Particular ultrasound examination may reveal tisomy 13. The findings that can point to trisomy 13 include renal abnormalities, omphalocele, facial clefting, neural tube defects, cardiac defects and increased nuchal translucency (PI, n.d.).
First-trimester multiple marker screening which is currently being used to screen Down’s syndrome may also aid in the identification of fetuses with trisomy 18 or 13. Markers used include nuchal translucency measurement, maternal age, human chorionic gonadotrophin (hCH) and pregnancy-associated plasma protein. Ultrasound done at this time may also reveal fetal anomalies. Screening in the second trimester can also be offered. The screening procedure is similar to that of Down’s Syndrome’s Antenal Screening (PI, n.d.).
While there have been a number of cases of sufferers surviving in the long-term, most of the infants with the condition succumb to it during their first few days and weeks after birth. Reliable life-expectancy estimates are hard to come by. There have been less than 10 population surveys documenting the survival of sufferers of trisomy 18 and trisomy 13. Having a reliable estimate of life expectancy will help make counseling of parents more effective. The extremely short median survival time is because a significantly big number of infants die within the first 24 hours after delivery. This reality points to a need to revisit the estimated survival time for infants who survive the first few days (Brewer, Holloway, Stone, Carothers, & FitzPatrick, 2002).
Ongoing Research Efforts
A number of institutions have lent their support to projects relating to trisomy conditions. Eunice Kennedy Shriver’s Intellectual and Development Disabilities Research Centers (IDDRCs), which was established by congress a year after the founding of NICHD, has been studying several issues relating to IDDs. The issues include Down Syndrome and they are looking to deepen understanding of the causes to find lasting and more effective treatment methods aimed at improving care for people with the conditions.
The Neonatal Research Network, which is backed by NICHD, has been studying health outcomes for those born with Trisomy 18 and 13. The institute has dedicated time and resources to helping stakeholders understand the nature of trisomy conditions so they can help their affected loved ones live healthier and longer lives (National Institute of Child Health Development, 2013).
Haldeman-Englert, C. . (2011). Trisomy 13. Retrieved from The New York Times: http://www.nytimes.com/health/guides/disease/trisomy-13/overview.html
BM. (n.d.). Trisomy 13 – Patau Syndrome. Retrieved from Baby Med: http://www.babymed.com/complications/trisomy-13-patau-syndrome
Brewer, C., Holloway, S., Stone, D., Carothers, A., & FitzPatrick, D. (2002). Survival in trisomy 13 and trisomy 18 cases ascertained from population-based registers. BMJ Journals.
Fleischer AC, Toy EC, Lee W, et al. Sonography in obstetrics and gynecology, principles and practice. 7th Ed. McGraw-Hill Companies; 2011. pp. 670 — 674.
GHR. (2017, April 11). Trisomy 13. Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/condition/trisomy-13#
Misanovic, V., Jonuzi, F., Bisacevic, E., & Vegar, S. (2002). [The Patau syndrome]. Med Arh., 42-3.
NICHD. (2013). March Is Trisomy Awareness Month. National Institute of Child Health and Human Development.
NS. (2011). Trisomy 13. Retrieved from Living Naturally: http://www.livingnaturally.com/ns/DisplayMonograph.asp?StoreID=70CDC1C8F3B5425B8CCB5B230415A520&DocID=condition-trisomy13#COMPLICATIONS
PHC. (2013). Patau Syndrome. Retrieved from Prime Health Channel: http://www.primehealthchannel.com/patau-syndrome.html
PI. (n.d.). Patau’s Syndrome (Trisomy 13). Retrieved from Patient: https://patient.info/doctor/pataus-syndrome-trisomy-13
Get Professional Assignment Help Cheaply
Are you busy and do not have time to handle your assignment? Are you scared that your paper will not make the grade? Do you have responsibilities that may hinder you from turning in your assignment on time? Are you tired and can barely handle your assignment? Are your grades inconsistent?
Whichever your reason is, it is valid! You can get professional academic help from our service at affordable rates. We have a team of professional academic writers who can handle all your assignments.
Why Choose Our Academic Writing Service?
- Plagiarism free papers
- Timely delivery
- Any deadline
- Skilled, Experienced Native English Writers
- Subject-relevant academic writer
- Adherence to paper instructions
- Ability to tackle bulk assignments
- Reasonable prices
- 24/7 Customer Support
- Get superb grades consistently
Online Academic Help With Different Subjects
Students barely have time to read. We got you! Have your literature essay or book review written without having the hassle of reading the book. You can get your literature paper custom-written for you by our literature specialists.
Do you struggle with finance? No need to torture yourself if finance is not your cup of tea. You can order your finance paper from our academic writing service and get 100% original work from competent finance experts.
While psychology may be an interesting subject, you may lack sufficient time to handle your assignments. Don’t despair; by using our academic writing service, you can be assured of perfect grades. Moreover, your grades will be consistent.
Engineering is quite a demanding subject. Students face a lot of pressure and barely have enough time to do what they love to do. Our academic writing service got you covered! Our engineering specialists follow the paper instructions and ensure timely delivery of the paper.
In the nursing course, you may have difficulties with literature reviews, annotated bibliographies, critical essays, and other assignments. Our nursing assignment writers will offer you professional nursing paper help at low prices.
Truth be told, sociology papers can be quite exhausting. Our academic writing service relieves you of fatigue, pressure, and stress. You can relax and have peace of mind as our academic writers handle your sociology assignment.
We take pride in having some of the best business writers in the industry. Our business writers have a lot of experience in the field. They are reliable, and you can be assured of a high-grade paper. They are able to handle business papers of any subject, length, deadline, and difficulty!
We boast of having some of the most experienced statistics experts in the industry. Our statistics experts have diverse skills, expertise, and knowledge to handle any kind of assignment. They have access to all kinds of software to get your assignment done.
Writing a law essay may prove to be an insurmountable obstacle, especially when you need to know the peculiarities of the legislative framework. Take advantage of our top-notch law specialists and get superb grades and 100% satisfaction.
What discipline/subjects do you deal in?
We have highlighted some of the most popular subjects we handle above. Those are just a tip of the iceberg. We deal in all academic disciplines since our writers are as diverse. They have been drawn from across all disciplines, and orders are assigned to those writers believed to be the best in the field. In a nutshell, there is no task we cannot handle; all you need to do is place your order with us. As long as your instructions are clear, just trust we shall deliver irrespective of the discipline.
Are your writers competent enough to handle my paper?
Our essay writers are graduates with bachelor's, masters, Ph.D., and doctorate degrees in various subjects. The minimum requirement to be an essay writer with our essay writing service is to have a college degree. All our academic writers have a minimum of two years of academic writing. We have a stringent recruitment process to ensure that we get only the most competent essay writers in the industry. We also ensure that the writers are handsomely compensated for their value. The majority of our writers are native English speakers. As such, the fluency of language and grammar is impeccable.
What if I don’t like the paper?
There is a very low likelihood that you won’t like the paper.
- When assigning your order, we match the paper’s discipline with the writer’s field/specialization. Since all our writers are graduates, we match the paper’s subject with the field the writer studied. For instance, if it’s a nursing paper, only a nursing graduate and writer will handle it. Furthermore, all our writers have academic writing experience and top-notch research skills.
- We have a quality assurance that reviews the paper before it gets to you. As such, we ensure that you get a paper that meets the required standard and will most definitely make the grade.
In the event that you don’t like your paper:
- The writer will revise the paper up to your pleasing. You have unlimited revisions. You simply need to highlight what specifically you don’t like about the paper, and the writer will make the amendments. The paper will be revised until you are satisfied. Revisions are free of charge
- We will have a different writer write the paper from scratch.
- Last resort, if the above does not work, we will refund your money.
Will the professor find out I didn’t write the paper myself?
Not at all. All papers are written from scratch. There is no way your tutor or instructor will realize that you did not write the paper yourself. In fact, we recommend using our assignment help services for consistent results.
What if the paper is plagiarized?
We check all papers for plagiarism before we submit them. We use powerful plagiarism checking software such as SafeAssign, LopesWrite, and Turnitin. We also upload the plagiarism report so that you can review it. We understand that plagiarism is academic suicide. We would not take the risk of submitting plagiarized work and jeopardize your academic journey. Furthermore, we do not sell or use prewritten papers, and each paper is written from scratch.
When will I get my paper?
You determine when you get the paper by setting the deadline when placing the order. All papers are delivered within the deadline. We are well aware that we operate in a time-sensitive industry. As such, we have laid out strategies to ensure that the client receives the paper on time and they never miss the deadline. We understand that papers that are submitted late have some points deducted. We do not want you to miss any points due to late submission. We work on beating deadlines by huge margins in order to ensure that you have ample time to review the paper before you submit it.
Will anyone find out that I used your services?
We have a privacy and confidentiality policy that guides our work. We NEVER share any customer information with third parties. Noone will ever know that you used our assignment help services. It’s only between you and us. We are bound by our policies to protect the customer’s identity and information. All your information, such as your names, phone number, email, order information, and so on, are protected. We have robust security systems that ensure that your data is protected. Hacking our systems is close to impossible, and it has never happened.
How our Assignment Help Service Works
1. Place an order
You fill all the paper instructions in the order form. Make sure you include all the helpful materials so that our academic writers can deliver the perfect paper. It will also help to eliminate unnecessary revisions.
2. Pay for the order
Proceed to pay for the paper so that it can be assigned to one of our expert academic writers. The paper subject is matched with the writer’s area of specialization.
3. Track the progress
You communicate with the writer and know about the progress of the paper. The client can ask the writer for drafts of the paper. The client can upload extra material and include additional instructions from the lecturer. Receive a paper.
4. Download the paper
The paper is sent to your email and uploaded to your personal account. You also get a plagiarism report attached to your paper.
PLACE THIS ORDER OR A SIMILAR ORDER WITH US TODAY AND GET A PERFECT SCORE!!!