Waiting for answer This question has not been answered yet. You can hire a professional tutor to get the answer.
Hello, I am looking for someone to write an essay on Down's Syndrome. It needs to be at least 1250 words.Download file to see previous pages... Leukemia also has a greater incidence in Down’s syndro
Hello, I am looking for someone to write an essay on Down's Syndrome. It needs to be at least 1250 words.Download file to see previous pages...
Leukemia also has a greater incidence in Down’s syndrome (Down’s syndrome, NIH). The major risk factor is advanced age of either parent, especially the mother. The life expectancy of DS has now risen to above 50 years enhancing the cognitive deficits and posing threats to the societal burden (Down’s syndrome, NIH). Children with Down’s have hypotonia of the muscles as the neurological system is affected in DS (Allison et al, 2008)). Developmental delay was a significant feature of DS. These children had all their milestones of development delayed. The chromosomal abnormality Nondisjunction appeared to be the alteration at the chromosomal level. Non-disjunction was the “abnormal segregation of chromosomes during meiosis which resulted in gametes having 2 copies of a parental chromosome, the resulting complement having an abnormal chromosomal portion ” in 95% of Down’s syndrome (Marieb and Hoehn, 2010). Familial Down’s syndrome seen in 4% individuals was also possible when the third chromosome 21was translocated to another chromosome like the 14th (Marieb and Hoehn, 2010). A milder phenotype of Down’s occurred in 1% of individuals when non-disjunction occurred in mitosis after the formation of the xygote. Screening at pregnancy A pregnant woman could be screened by chorionic villus sampling or by amniocentesis for fetal chromosomes. The incidence of Down’s in pregnant women over the age of 40 was 1 in 100. A suspicion of Down’s syndrome had to be clarified through genetic tests. The extent of damage to the child could also be understood from the genetic tests (Allison et al, 2008). Supports could be provided by professionals and self-help groups when the diagnosis was confirmed to help the couple adjust. This couple should also be advised on future pregnancies. Genetic counseling needed to include implications of diagnosis. Cardiac abnormalities The twenty-first chromosome had an extra autosome and hence termed trisomy 21 (Marieb and Hoehn, 2010). It occurred in the incidence of 1 in 800 live births if screening had not been done in the first trimester (Dunlevy et al, 2010). Had screening been done then, many pregnancies would have been terminated and the incidence would have been less. Many phenotype features had been associated with this disorder. Congenital heart disorder had been found in 40-60% of the children affected with DS. The heart complications were varied and could be mere chamber separation to really complex problems like tetralogy of Fallot. The involvement of the atrio-ventricular junctions indicated that the cardiovascular system was involved early in the embryogenesis as the AV junction was formed in the first stages of embryogenesis (Dunlevy et al, 2010). The trisomy involved many genes which varied in severity in different people. Atrio-venous junction malformations constituted a major feature of the cardiac abnormalities. AV septal defect and the common AV junction occurring in cardiogenesis being retained as malformation were two defects. Septal defects which caused shunting problems also were associated (Dunlevy et al, 2010). The shunting caused the anatomical arrangement of the cusps of the mitral and tricuspid valves to be disturbed.