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Down syndrome (DS) is the most common chromosomal abnormality with a prevalence of 11.8 per 10,000 live births [ 1 ]. Approximately 50% of newborns with DS have congenital heart disease (CHD) [ 2, 3 ]. The vast majority of these heart defects require surgical or transcatheter intervention, most commonly in infancy.
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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.
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Each human cell typically contains 23 pairs of chromosomes, which totals 46. Down syndrome occurs because of changes in the way cells in chromosome 21 divide. Every person with Down syndrome has an extra chromosome 21 in some or all of their cells. There are three types of Down syndrome with different causes, including: Trisomy 21. Translocation.
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Introduction. Down syndrome (DS) is the commonest chromosomal disorder among live born infants. Its prevalence varies from 1 in 700 to 1 in 1500 live births ().In 95 % of cases, Down syndrome is due to non - dysjunction of chromosome 21, while the remaining cases are either due to translocation or mosaicism (2-4).DS is associated with increased risk of medical problems including.
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Down syndrome was first described by an English physician John Langdon Down in 1866, but its association with chromosome 21 was established almost 100 years later by Dr. Jerome Lejeune in Paris. It is the presence of all or part of the third copy of chromosome 21 which causes Down syndrome, the most common chromosomal abnormality occurring in humans.[1] It is also found that the most.
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features. There are three types of Down syndrome, all with the same features: Trisomy 21, the most common type; Mosaic.
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They have an extra chromosome 21, which is why Down syndrome is also sometimes known as trisomy 21. People with Down syndrome may have: areas of strengths and other areas where they need more support, just like everyone else in the community. some level of intellectual disability. some characteristic physical features.
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The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives. Physical Symptoms. Common physical signs of Down syndrome include 1, 2: Decreased or poor muscle tone; Short neck, with excess skin at the back of the neck; Flattened facial profile and nose
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Introduction. Down syndrome (DS), caused by the presence of a third copy of chromosome 21, is the most frequently occurring chromosomal condition, affecting from 1 in 700 to 1 in 1,500 live-born babies [].DS is associated with developmental disabilities as well as medical diseases such as congenital heart disease, pulmonary abnormalities, sleep-related breathing disorders, and endocrinal.
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Down syndrome (sometimes called Down's syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. This causes physical.
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Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small "packages" of genes in the body. They determine how a baby's body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these.
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"Mongo" is short for "Mongoloid," the historically term for Down syndrome. "Drooling doofus," another common insult for those with Down syndrome having hypotonia and small mouths, which can cause the tongue to protrude and drool. And "moron" having been a formal IQ classification that was bastardized into a slur.
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Resources and support. If you want to know more about Down syndrome you can: Contact Down Syndrome Australia or call 1300 881 935. Talk to your doctor or call healthdirect on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak to, 24 hours, 7 days a week.
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Down syndrome is a set of cognitive and physical symptoms that result from having an extra chromosome 21 or an extra piece of that chromosome. It is the most common chromosomal cause of mild to moderate intellectual disabilities. People with Down syndrome also have some distinct physical features, such as a flat-looking face, and they are at risk for a number of other health conditions.
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Infants with Down syndrome have a 62-fold higher rate of pneumonia, especially in the first year after birth, than do infants without Down syndrome, for example. 2 Hypothyroidism. The thyroid is a gland that makes hormones the body uses to regulate things such as temperature and energy.