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What Is Down Syndrome?

       Down syndrome is a genetic disorder in which a kid is born with an extra copy of chromosome 2. As a result, specific genes on chromosome 21 become overexpressed, affecting the individual in a variety of ways. Each person is affected differently by Down syndrome; no individual is likely to exhibit all of the features frequently associated with Down syndrome.

Types of Down Syndrome

1

Trisomy 21:

The most common form, occurring in about 95% of cases, where there is an extra copy of chromosome 21 in every cell.

2

Translocation Down Syndrome:

 In this type, a part of chromosome 21 breaks off and attaches to another chromosome, often chromosome 14. While the total genetic material is normal, the presence of the extra chromosome causes Down syndrome characteristics

3

Mosaic Down Syndrome:

This rare form results from a mixture of cells with the typical number of chromosomes and cells with an extra chromosome 21. Individuals with mosaic Down syndrome may exhibit milder symptoms than those with trisomy 21.

Diagnosis 

 Advancements in medical technology have enabled the diagnosis of Down syndrome during pregnancy. Prenatal screening tests, such as ultrasound and blood tests, can indicate an increased likelihood of the syndrome. However, a definitive diagnosis is often obtained through diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis.

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Possible Developmental Concerns

  • Speech deficits

  • Mild to moderate intellectual delays

  • Neurological and cognitive differences

  • Memory impairment

  • Higher prevalence of autism spectrum disorder

  • Behavioural issues

Common Physical features 

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  • Short stature

  • Simian crease on the palms

  • Extra space between the big toe and adjacent toe

  • Flat bridge of the nose

  • An extra fold of skin around the eyes

  • Widely spaced and upward-slanting eyes

  • Straight hair

  • Structural differences in the mouth and ears

Possible Health Concerns 

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  • Thyroid problems

  • Early-onset Alzheimer’s and dementia

  • Dental problems

  • Respiratory issues

  • Vision and hearing impairment

  • Sleep disorders

  • Gastrointestinal issues

  • Mental health issues

  • Childhood leukemia

  • Heart defects

* Note that every person born with Down Syndrome is a unique individual that can anticipate living long, fulfilling lives due to advancements in medical science, a growing awareness, and changing social standards.

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