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DOWN SYNDROME

How is Down Syndrome Diagnosed?

Down syndrome can be diagnosed based on the baby's physical symptoms at birth or soon after birth. However, the most reliable methods for diagnosing Down syndrome are special tests. These tests are done by examining the baby's DNA and check the number and structure of the baby's chromosomes.

WHAT IS DOWN SYNDROME?

Down syndrome is a lifelong genetic disorder. This disorder is caused by three copies of chromosome 21. This condition comes with a decrease in some of the babies' innate characteristics and mental abilities.
Down syndrome can be identified immediately after the birth of the child. Babies have distinctive features on their faces, but Down syndrome can present differently in each individual. Children with Down syndrome often have lower than normal mental abilities and may have learning difficulties. Additionally, children with Down syndrome are often shorter and slightly overweight, and may have problems with some body systems (for example, respiratory and skeletal).
Down syndrome applies to people of all age groups, but with advancing age, the life expectancy of people with Down syndrome increases. Today, children with Down syndrome can often live a normal lifespan for their age. A variety of treatment options are available to aid the growth and development of children with Down syndrome. Families and health professionals can create an individual plan to help meet the needs of the child with Down syndrome.

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WHAT ARE THE TYPES OF DOWN SYNDROME?

Down syndrome is a genetic disorder caused by three copies of chromosome 21. This disorder occurs because there is an extra copy of chromosome 21. Down syndrome can occur in three varieties:
Trisomy 21: This is the most common type and occurs because babies are born with three copies of chromosome 21.
Mosaic Down syndrome: This type occurs because some of the baby's cells have three copies of chromosome 21, but other cells have a normal number of copies.
Translocation Down syndrome: This type is a genetic disorder in which part of chromosome 21 moves to other chromosomes, causing babies to have three copies of chromosome 21. Translocation Down syndrome is less common than the other two types.
The mental and physical development of children with Down syndrome may vary depending on which type of Down syndrome they have. Trisomy 21 and Mosaic Down syndrome are more common and usually have a more severe course. Translocation Down syndrome is less common and usually has a milder course.

GYNECOLOGY AND OBSTETRICS

What are the causes of Down Syndrome?

Down syndrome is caused by a person having a double chromosome 21. Normally, every person has 23 pairs of chromosomes, and these chromosomes regulate the functioning and development of the human body. Down syndrome occurs due to double chromosome 21. This double chromosome can cause problems in the development and functioning of the human body.
Down syndrome usually occurs randomly and can often occur even though there is no previous family history of the condition. Down syndrome may be related to the age of the mother and father; However, research on this subject has not been combined and a definitive relationship has not been established.
If you need more information about the causes of Down syndrome, please contact your doctor or a geneticist.

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What are the symptoms of Down syndrome?

Down syndrome shows visible signs in the physical and mental development of a person. Although these symptoms are different for each person, they usually include:
Abnormalities in facial features: For example, your nose is low and wide, your eyes are lower and your face is smaller.
Retardation in physical development: For example, smaller body size, lower weight and slower physical development.
Mental retardation: For example, delayed language development, low intelligence level, and learning disabilities.
Attention deficit and hyperactivity disorder (ADHD): It is a common problem, especially in children.
Immune system problems: For example, a higher risk of infection.
If you need more information about the symptoms of Down syndrome, please contact your doctor or a geneticist.

Tests Performed for Down Syndrome Diagnosis:

Ultrasonography: It is a method used to observe the baby's development process. This test checks whether the baby shows abnormalities in facial features.
Amniocentesis: This test is done by examining the baby's amniotic fluid (fluid in the womb). The cells in the amniotic fluid contain the baby's DNA, and when these cells are examined, the number and structure of the baby's chromosomes can be checked.
Chorionic villus sampling (CVP): This test is performed by taking a sample from the baby's placenta (the structure in the womb). The placenta is a structure where the baby's cells are located, and when these cells are examined, the number and structure of the baby's chromosomes can be checked.
If you need more information about diagnosing Down syndrome, please contact your doctor or a geneticist.

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