Trisonomy 21

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What are trisomies?

The term trisomy is used to describe the presence of three chromosomes, rather than the usual matched pair of
chromosomes. if a baby is born with three #21 chromosomes, rather than the usual pair, then the baby would be said to
have "trisomy 21." Trisomy 21 is also known as Down syndrome.

Down Syndrome

Down Syndrome is a type of mental retardation caused by extra genetic material in chromosome 21. This can be due to
a process called nondisjunction, in which genetic materials fail to separate during a crucial part of the formation of
gametes, resulting in an extra chromosome (called trisomy 21). The cause of nondisjunction is not known, although it
correlates with a woman’s age reference. The additional material present influences development and results in the
state known as Down Syndrome.

Some physical characteristics of Down Syndrome in infants are decreased muscle tone, a flat face, eyes slanting up,
irregular shaped ears, ability to extend joints beyond the usual, large space between the big toe and its neighbouring
toe, large tongue relative to the mouth, etc.

Down Syndrome patients can also be afflicted with other conditions, including heart disease, Alzheimer’s disease, and
leukaemia.

Down syndrome is one of the most common chromosome abnormalities in humans. It occurs in about one per 1,000
babies born each year. In 2015, Down syndrome was present in 5.4 million individuals globally and resulted in 27,000
deaths, down from 43,000 deaths in 1990.

Life expectancy among adults with Down syndrome is about 60 years, though average lifespan varies.

There is no cure for Down syndrome. Doctors are not certain how to prevent the chromosomal error that causes Down
syndrome. To date, there is no reason to believe that a parent could have done anything to cause or prevent the birth of
a baby with Down syndrome.

Some people claim that various high-dose vitamins given to children with Down syndrome will improve the mental
performance and lessen the degree of intellectual disability. To date, however, no medical studies have proved that this
actually works. It is important for new families to talk with their physician, other families, and national Down syndrome
support agencies to learn what to expect with Down syndrome and to learn about things that may be helpful in raising a
child with Down syndrome.

Treatment Therapies

Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve
posture and balance.

Speech-language therapy can help children with Down syndrome improve their communication skills and use language
more effectively.

Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person's needs and abilities.

Emotional and behavioral therapies work to find useful responses to both desirable and undesirable behaviors.

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