Down Syndrome Is A Chromosomal Disorder Essay
Down Syndrome Is A Chromosomal Disorder Essay
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What Is Down Syndrome?
Down syndrome is a chromosomal disorder caused due to the abnormal division of cells which leads to an extra full or partial copy of chromosome 21 (Sherman et al, 2007). ‘Jerome Lejeune’, a French physician, developed the cause of down syndrome in 1959 (National Down Syndrome Society).Down Syndrome Is A Chromosomal Disorder Essay. In case of down syndrome, the count of chromosomes is 47 instead of 46 (half chromosomes comes from the mother and half from the father i.e. 23 from each). So this is due to having one extra chromosome number 21 in addition to the already existing normal pair. This type of down syndrome is called trisomy 21 which accounts for 95% of the down syndrome cases (Spencer, 2014). According to researchers the extra copy of chromosome 21 affects the normal course of development of an individual, and also there is an increased risk of health problems associated with this disorder (Dekker, De Deyn, & Rots, 2017).Down Syndrome Is A Chromosomal Disorder Essay.
Mosaicism is the least common form of down syndrome which accounts for only one percent of cases. This occurs due to a mixture of two type of cells, with some containing the usual count of 46 and some containing 47 chromosomes. People suffering from mosaic down syndrome have very fewer characteristics as compared to other types of down syndrome). Down Syndrome Is A Chromosomal Disorder Essay. Translocation type of down syndrome accounts for the remaining 4% cases of the down syndrome. In this type the additional full or partial copy of chromosome 21 attaches to the another chromosome (chromosome 14) (Dekker, De Deyn, & Rots, 2017). The hereditary component is present only in one third cases of translocation down syndrome, that accounts for one percent of the total cases of down syndrome as a whole. This genetic disorder further affects the physical and mental wellbeing of the individual by slowing the development growth both physically and mentally. Down Syndrome Is A Chromosomal Disorder Essay.
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An individual with down syndrome may also suffer from heart and gastrointestinal disorders. Early interventions and better knowledge about down syndrome will greatly help in increasing the quality of life of the children or adult facing this disorder (Centre for Arab Genomic Studies, 2013). Small stature, low muscle tone, an upward slant to the eyes and a single deep crease across the center of the palm are some of the physical changes that are rightly noticeable in an individual facing this disorder (Dekker, De Deyn, & Rots, 2017). However, these are not necessarily the only physical changes that an individual face. Language development is also very slow amongst the children facing this disorder. Down Syndrome Is A Chromosomal Disorder Essay.
The study of Aburawi, et al, (2015) also finds that children suffering with down syndrome are significantly shorter and heavier in weight than normal children. Obesity is also a significant
Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.
Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It’s the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.
Better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives.
Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According…show more content…
Unlike many other syndromes those affected by Fragile X are expected to have an average life span and have fewer health problems. Down syndrome, also known as trisomy 21, or trisomy G is one syndrome that has many characteristics. In 1866 “English doctor, John Langdon Down published a description of the condition” (Downs Syndrome Association). According to Genetics Home Reference, Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone in infancy. Down syndrome is caused by an extra copy of the 21st chromosome. Unlike Fragile X syndrome, Down syndrome is most commonly detected by the appearance of the individual.Down Syndrome Is A Chromosomal Disorder Essay. Approximately 15% of people with Down syndrome “have an underactive thyroid gland. The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Some of the problems these individuals may have are heart defects, infections, hypothyroidism, blood disorders, vision problems, Alzheimer’s, and a few other problems” (Associated Conditions). However, not every individual that have Down syndrome are faced with these health problems. In most cases, Down syndrome babies are born to women who are much older when they give birth.
People with Down
Down syndrome is a group of physical and mental traits caused by a gene defect that happens before the birth of the child. Children with Down syndrome tend to have a few distinctive physical features such as a flat face and a short neck. They also have some degree of intellectual disability although the severity varies from case to case. But in most cases, it is mild to moderate.
In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all our inherited traits and are grouped along rod-like structures called chromosomes.Down Syndrome Is A Chromosomal Disorder Essay. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down…
It was named after Dr. John Langdon Down who first described it.
Prevalence
Prevalence of Down syndrome is estimated to be between 1 in 1,000 to 1 in 1,100 live births worldwide. Around 3,000 to 5,000 children are born with chromosome disorder each year and around 250,000 in the USA are affected by Down syndrome.
Hearing problems are faced by children suffering from DS in 60 to 80% of the cases. Congenital heart disease is experienced by 40 to 45% of children suffering from DS. Abnormalities with the intestines are also most likely to develop in children with DS. Children suffering from DS also experience more eye problems than others who do not have this disorder. Down Syndrome Is A Chromosomal Disorder Essay.
The prevalence of DS at the time of birth increased by 31.1% from 1979 to 2003 in data collected from 10 US regions.
Down Syndrome Survival
There has been dramatic increase in the life expectancy of people suffering from Down syndrome between 1960 and 2007. People with DS in the 1960s used to live up to the age of 10 years on an average only. The average age of people suffering from DS increased to 47 years in 2007.
Around 93% of babies born with the disorder survived till one year of age between 1983 and 2003. About 88% of babies born with DS survived up to 20 years of age during the same period.
Decline in the number of infants suffering from DS that die before reaching one year of age has been observed over time. The rate of death in babies. Down Syndrome Is A Chromosomal Disorder Essay.
