Trisosomy 13 Research Paper

Trisomy 18 cannot be cured because you cannot fix chromosomes but only can fix the defects that occur because of the chromosomal disorder. This disorder is a problem with the number of chromosomes a person is born with. The 18th chromosome is half duplicated causing birth defects and problems in their development, also allowing only for a short lifespan. This disorder is not inherited, but instead happens randomly when the chromosomes of the mother and father combine and a third chromosome 18 is formed. There is no known cause for why this extra chromosome develops in the fetus.

"Williams Syndrome - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, 212 Mar. 2017. Web. 21 Mar.

Noonan Syndrome is the result of a chromosomal abnormality. This specific type of abnormality can only be detected by deep molecular testing of the parents and the offspring who has been affected by Noonan syndrome. Detection then becomes a tricky process as the signs and symptoms of the defect can be misdiagnosed as their individual appearances. A short stature can be seen as just a physical abnormality, the same for eye spacing and other physically noticeable attributes. The heart diseases can be seen as completely separate problems as well. For this reason cases of Noonan syndrome can persist into a person 's adult life completely undiagnosed. Detection therefore relies on the parents being genetically tested before ever conceiving.

The purpose of this paper is to complete a Genetic and Genomic Nursing Assessment to analyze family genetic health risks. Genomics is the study of genes in the human genome and their interactions with each other and the environment and genetics is the study of individual genes and their effect on clinical disorders (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). Nurses should be able to perform an assessment of a family 's genetic health risks by using a three-generation family pedigree to obtain information regarding possible genetic inheritance pattern and recurrence risks. The family chosen for this paper has a history of chromosome balanced and unbalanced translocation. A balanced translocation is a chromosomal abnormality that if unbalanced (too much or too little genetic material) can lead to infertility, multiple miscarriages, or a child with congenital abnormalities, developmental issues, etc. A balanced translocation does not have a straightforward inheritance pattern. It depends on the chromosomes involved, if the carrier is a male versus female and how much genetic material is involved in the translocation itself.

2-“Achondroplasia.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, www.rarediseases.info.nih.gov/diseases/8173/achondroplasia.

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

. . M, P. (2015, October 27). An Overview of Human Genetic Disorders with Special Reference to African Americans. Retrieved November 16, 2017, from https://www.omicsonline.org/open-access/an-overview-of-human-genetic-disorders-with-special-reference-to-africanamericans-2155-9821-1000e139.php?aid=63273

The disease may be found on a chromosome analysis. There is no said or found cure or treatment for the disease. It’s very rare, but not impossible, to get the disease from parents or grandparents.

Metatropic dysplasia, also known as metatropic dwarfism is a very rare disease in humans that is often deadly and identifiable after birth or into the infant stages of a baby. It has been discussed that MTD is in part caused by mutations in the TRVP4 gene. This is located at 12q24.1 which is the long (q) arm of chromosome 12 at position 24.1, base pairs 109,784,087 to 109,833,407. There have been approximately 81 cases reported so far with odds of 1/1,000,000. A few cases have been severe to the point of endangering the mother’s life. This type of dwarfism affects the human skeleton in such a way that affects normal growth. Body proportions are abnormal, and a child will have unusual features such as shorter limbs, a narrow chest, and bones that have not developed correctly. Several facial deformities

Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT gene that plays critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome. Wnt3 is the only gene in which mutations are known to cause terta-amelia syndrome. The mutation detection frequency is unknown, as only a limited number of families have been studied. Tetra-Amelia syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being affected and not a carrier. Prenatal testing by molecular genetic testing is possible if the disease-causing mutation in WNT3 have been identified in an affected family member

Rett syndrome (RTT). RTT, identified for the first time in 1966 by Andreas Rett, is a rare genetic neurodevelopmental disorder that occurs predominantly in girls. The clinical features include growth failure, psychomotor regression, characteristic repetitive stereotyped hands movements, and severe problems with language, learning and coordination development. Other signs involve breathing abnormalities, seizures and scoliosis (Leonard H, Cobb S, Downs J. Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol. 2017 Jan;13(1):37-51). In 1999, it has been established that RTT is caused by mutations in the X-linked MECP2 (methyl CpG binding protein 2) gene (Amir et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23,

Trisomy 13 is disorder where you have a cleft pallet (where the roof of your mouth is split). You may also have a cleft lip. (split lip) Low set ears, severe feeding difficulties, incomplete development of some sections of the brain, extra fingers and toes (supernumerary), developmental delays, small eyes (microphthalmial), abnormal groove in upper lip, sloping forehead, diminished muscle

Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.  Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.

Patau Syndrome, otherwise known as T13 is a very rare and lethal genetic disorder in which a person has three copies of chromosome 13 instead of two. T13 is characterized by the presence of an assortment of heart and brain malformation in newborns. Children with the disease are often born with multiple birth defects that are normally associated with T13 but not limited to it, including small eyes, undescended testicles, cleft lip/palate, and they consistently exhibit signs of mental deficiency and/or retardation. Approximately 1 in 10,000 newborns are born with Patau Syndrome each year.

Table 2 summarizes the main encountered clinical findings in their order of incidence. 178/203 (88%) of patients were born to consanguineous parents, consistent with the autosomal recessive inheritance pattern of these disorders. When comparing this rate with