Industrial Technological Baccalaureate Center and services No.26
Specialty: Preparation of food and drinks.
Degree and group: 3 ° "E"
Name : Naomi
List number: 16
Teacher : MC Fausto Guzmán Ortiz
Type of test: Scientific test .
Title of the essay: Are diseases caused by chromosomal alterations transmitted by parents?
Delivery date: 30 / November / 2017
Unit: Third Unit
Topic: Genetics
Name of the subject: Biology
Firm:
INDEX
Introduction:
This argumentative essay sought to find an answer to the genetic alterations found in the chromosomes, where they originate, what parts of the human body it affects, and the treatment that is given to it.
Down syndrome, Turner syndrome, Klinefelter syndrome, Marfan syndrome and Patau syndrome . Are they diseases that came to present alterations in the structure of the chromosome, these were inherited from the parents to the children ?
This essay will demonstrate that the diseases caused by chromosomal alterations are partially inherited by the parents , and will describe the characteristics of each one of them.
The objective to be achieved is to demonstrate that the diseases caused by chromosomal alterations are partly inherited by the parents.
This essay is important to have a document that demonstrates the importance of learning about this topic, it was designed for people who want to read about this topic and clarify their doubts.
Development:
Diseases caused by chromosomal alterations are a type of anomalies presented in the total number of chromosomes " Chromosomes are normally found in homologous pairs when, due to mutations appear in triplicate or individually, they produce in the affectations various physical and mental manifestations " (Larousse, 1997, page 344)
The diseases caused by chromosomal alterations are usually inherited by the parents from the children , the child can inherit an extra chromosome or it may lack one, this leads to a disease caused by genetic alterations , a very common case of this is the Syndrome of Down " Normally, at the moment of conception, a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 of the mother and 23 of the father . " (Nemours, 2017, page 1)
Down syndrome is one of the most common genetic disorders when there is an abnormality on chromosome 21 parents what their children can inherit because this anomaly which is recognized by an extra chromosome in the pair No.21 , obtaining a total of 47 chromosomes instead of 46 , " Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21, a condition called trisomy 21 " (Larousse, 1997, page 344) people who suffer from this syndrome tend to share characteristic features which are like flat facial profile, slanted eyes, small ears and protrusion lin gual, its treatment is that
" Experts recommend enrolling children with Down syndrome in early intervention programs as soon as possible. Physiotherapists, occupational therapists, speech therapists and child educators can work with your child to enhance and accelerate their development. " (Nemours, 2017, page 3) .
Turner syndrome is a chromosomal alteration that occurs only in women, its cause is due to the fact that women usually have two XX chromosomes but people with this syndrome only have one X chromosome or have both but one with some defect, the women who suffer from it have as main characteristics short stature, ears with deformities, and inflamed hands and feet, one of their treatments is to take the growth hormone " Growth hormone often helps girls reach close to average heights " (US Department of Health and Human Services National Institutes of Health, 2017, para.4 )
Klinefelter syndrome is a tra st Orno affecting men, their cause is due to having one or more chromosomes X when it is normal to have an XY chromosome, does not count as hereditary, since it is called as a genetic disorder what it means to be born with it, the most remarkable characteristics of this syndrome are that " The testicles and the penis are small, can develop breast and other female characteristics "(Larousse, 1997, page 344) Your treatment may be surgery or hormone medication.
Marfan syndrome occurs because there is a genetic alteration in the chromosome 15 of the product of a pregnancy, the mutations that occur in genes of this chromosome cause alterations in proteins that are part of the connective tissue , mainly affects the eyes, the skeleton, The heart, and blood vessels of men or women, their treatment is that they have a medical follow-up followed and follow a personalized treatment
"In some cases (for example, if an aneurysm forms in the aorta or there is a problem with the aortic or mitral valves) surgical intervention is necessary to place a prosthesis in the aorta or in the heart valves . " (Higueras Ortega, 2015 , para.5 )
The Patau syndrome or trisomy 13 occurs when there is an alteration due to the presence of a third partial or total copy of chromosome 13 " Its cause is because there is no chromosomal separation during the first phase of mitosis (process of cell division) , generating gametes with 24 chromatids " (Anonymous, 2017, paragraph 3 ) It is characterized by brain malformations, facial dysmorphism, eye abnormalities, polydactyly, cardiac malformations, severe psychomotor retardation and severe intellectual disability. Most newborns with trisomy 13 usually need medical assistance, since cardiac anomalies represent themain cause of Mortality of trisomy 13 "S and raises the ethical question of whether surgical repair is indicated given the poor prognosis of the box both physically and intellectually" (Spanish Asosiación of Pediatrics, 2010, para 9)
Conclusion:
At first I had little idea what were the diseases caused by alterations cromos omic knew only one Down the S índrome which occurs on chromosome 21, according to my research progressed able to identify many m ore.
It was found that the diseases caused by chromosomal alterations are partly inherited by the parents, but they are also due to alterations in the structure of the chromosomes.
It is verified that the chromosomal diseases caused by alterations are partly inherited by the parents with the presentation of a few of all the chromosomal diseases that exist.
Thanks to this check we can proceed to look for in the family lines the bearer of this disease that could give us or we could inherit our children.
Sources consulted
Anonymous. (2017). Sindrome De . Obtained from Syndrome From: https://sindrome-de.com/patau
Spanish Association of Pediatrics. (2010). aeped. Obtained from Trisomy 13 (Patau Syndrome): http://www.aeped.es/sites/default/files/documentos/sindrome_de_patau.pdf
Higueras Ortega, L. (January 2015). Spanish Heart Foundation (FEC) . Obtained from Spanish Heart Foundation: http://www.fundaciondelcorazon.com/informacion-para-pacientes/enfermedades-cardiovasculares/sindrome-de-marfan.html
Larousse. (1997). Congenital diseases In G. b. Aylesbury, Scientific Encyclopedia (page 344). Querétaro: Larousse.
Nemours. (2017). KidsHealth. Retrieved from The Nemours Foundation: http://kidshealth.org/en/parents/down-syndrome-esp.html
US Department of Health and Human Services National Institutes of Health. (July 17, 2017). MedlinePlus. Obtained from Turner Syndrome: https://medlineplus.gov/spanish/turnersyndrome.html
1
Comentarios
Publicar un comentario