Down syndrome is one of the most common genetic differences worldwide. A genetic condition, Down syndrome occurs when an individual has an extra chromosome in their 21st chromosome pair. This can affect physical and mental development. However, with early intervention, proper education and support, individuals with Down syndrome can live healthy, happy and productive lives. So how does Down syndrome occur, what types are there and how is it diagnosed? Here are all the details...

What is Down Syndrome?

Down syndrome is a condition that occurs when an individual has an extra copy of the 21st chromosome in their genetic structure. While people normally have two of each chromosome, individuals with Down syndrome have three copies of the 21st chromosome. For this reason, it is also medically called "Trisomy 21". This genetic difference can affect the individual's mental and physical development, but the symptoms and effects may vary in each individual.

"Down syndrome is not a disease, it is a genetic condition. The important thing is for individuals to receive the support that will maximize their potential."

What Causes Down Syndrome?

The main cause of Down syndrome is the formation of an extra copy of chromosome 21 as a result of a genetic error. This is a random event that occurs during fertilization and the exact cause is not known. However, some risk factors may increase the likelihood of Down syndrome:

Advancing maternal age: Women over the age of 35 are more likely to have a baby with Down syndrome.

Genetic predisposition: Translocation Down syndrome can be inherited if one of the parents is a carrier.

Random genetic changes: Most cases of Down syndrome occur randomly and are not hereditary.

What are the Types of Down Syndrome?

Down syndrome is divided into three main types according to their genetic differences:

1. Trisomy 21: The most common type of Down syndrome (95%). Individuals have an extra copy of chromosome 21 in all their cells.

2. Translocation Down Syndrome: It accounts for approximately 4% of cases. The extra chromosome is found attached to another chromosome and can sometimes be inherited.

3.  Mosaic Down Syndrome: It constitutes 1% of the cases. While the 21st chromosome is in three copies in some cells of the individual, the normal number of chromosomes is in other cells. In this case, the symptoms may be milder.

What are the Symptoms of Down Syndrome?

Individuals with Down syndrome usually show certain physical and mental characteristics. However, each individual can be affected to different levels. Common symptoms are:

- Physical Characteristics:

Almond-shaped slanted eyes
Flat and flat nose bridge
Small ears
Single line in the palm
Loose muscle tone (hypotonia)

- Mental and Developmental Characteristics:

Mild to moderate mental developmental delay
Delay in speech and language development
Slow development in motor skills
Differences in social and emotional development

“Every individual with Down syndrome has different abilities and developmental speed. They can make great progress with appropriate support.”

How is Down Syndrome Diagnosed?

Down syndrome can be diagnosed with tests performed during pregnancy or after birth.

- Diagnosis During Pregnancy:

First Trimester Screening Test: Risk is assessed with a combination of blood test and ultrasound.
Chorionic Villus Biopsy (CVS): Genetic analysis is performed by taking a sample from the placenta.
Amniocentesis: A definitive diagnosis can be made with a sample taken from the amniotic fluid in which the baby is located.
- Postnatal Diagnosis:

Physical symptoms are evaluated after the baby is born.
Karyotyping Test: A definitive diagnosis is made by examining the baby's chromosome structure.

Down Syndrome Treatment

Down syndrome is not a disease, but a lifelong genetic condition. However, early intervention and supportive treatments can positively affect the individual's development:

Physical therapy: Necessary for supporting muscle development and motor skills.
Speech therapy: Helps to increase language development and communication skills.
Special education programs: Educational methods appropriate to the individual's learning process are developed.
Regular health checks: Regular follow-ups are necessary for heart, digestive and thyroid problems.

“Individuals with Down syndrome can achieve many successes with appropriate education and support. Including them in society means creating a more inclusive world for everyone.”

“Down syndrome is a genetic difference that lasts an individual’s entire life. However, with appropriate education, support and love, individuals with Down syndrome can fully participate in life and live independent lives. The important thing is to discover their talents, provide opportunities and ensure that they have an equal place in society. A more inclusive and supportive society can be built by increasing awareness about Down syndrome.”

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