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Down syndrome

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Down syndrome, also known as Trisomy 21, is a genetic disorder. It is the most common chromosomal abnormality in humans. This condition occurs when a person has all or part of a third copy of chromosome 21.

Down Syndrome Karyotype
Down Syndrome Karyotype

Chromosomes are the structures that carry genetic instructions. Most people have two copies of chromosome 21. In Down syndrome, an extra copy changes how the body and brain develop. This can lead to developmental delays and intellectual disabilities. It also causes specific physical features.

Autism somali Center 01
Autism somali Center 01

There are three distinct genetic forms of this syndrome. The most common type is trisomy 21. In this form, every cell in the body has an extra copy of chromosome 21. This happens at conception when the egg and sperm combine. The second type is called translocation Down syndrome. This occurs when extra material from chromosome 21 attaches to another chromosome. The third type is mosaic Down syndrome. This affects only 1% to 2% of cases. In these instances, the extra chromosome is added during the embryo stage. Consequently, only some cells in the body carry the extra genetic material.

Prenatal Down syndrome screening algorithm
Prenatal Down syndrome screening algorithm

Medical history shows how our understanding has grown over time. British physician John Langdon Down gave the syndrome its name. He dedicated his medical practice to supporting those with the condition. Earlier descriptions were made by French psychiatrist Jean-Étienne Dominique Esquirol in 1838. French physician Édouard Séguin also described features in 1844. However, the exact genetic cause was not discovered until 1959. This discovery allowed doctors to understand the role of the extra chromosome.

Portrait of John Langdon Down (c 1870) by Sydney Hodges
Portrait of John Langdon Down (c 1870) by Sydney Hodges

Down syndrome affects many different physical systems. Many individuals have low muscle tone and excessive joint flexibility. Physical traits can include slanted eyes and epicanthal folds.

Brushfield eye crop
Brushfield eye crop

Some people have a single transverse palmar crease across their hand. About 40% of newborns with Down syndrome have congenital heart disease. This often involves defects in the walls of the heart. Vision and hearing issues are also very common. Hearing problems affect 50% to 90% of children with the condition.

Intellectual and neurological development also follow specific patterns. Most individuals have mild or moderate intellectual disability. Their mental abilities as adults are often similar to an eight- or nine-year-old. However, their social and emotional awareness is often very high.

Developmental milestones like crawling and walking often happen later than usual. For example, half of these children walk after 24 months. Some individuals may also face risks for epilepsy or Alzheimer's disease. About 15% of those living 40 years or longer develop Alzheimer's. As people age, the gap between them and their peers may widen.

Statistics show the global impact of this condition. It occurs in about 1 in 1,000 babies born worldwide. In the United States, the rate is about 1 in 700. In 2015, there were 5.4 million people living with Down syndrome globally. The incidence increases with maternal age. For mothers aged 20, the risk is less than 0.1%. For mothers aged 45, the risk rises to 3%. This increase happens by chance and is not caused by specific behaviors.

Down risk by maternal age from jk morris
Down risk by maternal age from jk morris

While there is no cure, support improves quality of life. Proper education and healthcare are essential for success. Some children attend typical school classes. Others require specialized education to meet their needs. In the United States, about 20% of adults in the workforce hold paid jobs. Many of these adults work in sheltered environments. With proper medical care, life expectancy is now around 50 to 60 years in the developed world.

Malvernphoto b (cropped)
Malvernphoto b (cropped)
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🖼️ Images & Media (12)
File:Autism somali Center 01.jpg
Autism somali Center 01.jpg
File:Malvernphoto b (cropped).jpg
Malvernphoto b (cropped).jpg
File:Feet of a boy with Down Syndrome.JPG
Feet of a boy with Down Syndrome.JPG
File:A boy with Down syndrome using cordless drill to assemble a book case.jpg
A boy with Down syndrome using cordless...
File:Brushfield eye crop.jpg
Brushfield eye crop.jpg
File:Down Syndrome Karyotype.png
Down Syndrome Karyotype.png
File:Prenatal Down syndrome screening algorithm.png
Prenatal Down syndrome screening algorithm.png
File:Downs syndrome world map-Deaths per million persons-WHO2012.svg
Downs syndrome world map-Deaths per...
File:Down risk by maternal age from jk morris.png
Down risk by maternal age from jk morris.png
File:The Adoration of the Christ Child MET DT8852.jpg
The Adoration of the Christ Child MET DT8852.jpg
File:Portrait of John Langdon Down (c 1870) by Sydney Hodges.jpg
Portrait of John Langdon Down (c 1870) by...
File:Chris_Burke.jpg
Chris_Burke.jpg
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