Down syndrome

By definition, Down syndrome is a genetic condition whereby an individual has a surplus of DNA material, says A quick genetics lesson is probably in order here. Every cell in a person’s body contains their genetic code, or DNA, which typically consists of 23 pairs of chromosomes — with one chromosome in each pair coming from the child’s mother and the other chromosome in each pair coming from the child’s father. ( When someone has Down syndrome, they have all 23 pairs of their chromosomes, but they are also born with an extra full or partial copy of the 21st chromosome, Dr. Pipan explains. The condition is sometimes referred to as “chromosome 21 Down syndrome” or “trisomy 21 Down syndrome” because of this third copy of the 21st chromosome. Every chromosome carries dozens, hundreds, or even thousands of specific genes. Pipan points out that many disorders stem from a single gene abnormality or mutation. The 21st chromosome has 300 genes, and at least two of them — and potentially more — contribute to Down syndrome. These genes are located in the so-called Down syndrome critical region, a chromosome 21 segment purported to contain genes responsible for many features of Down syndrome, including craniofacial dysmorphology. “So it’s a pretty complicated disorder,” Pipan says. The extra genetic material is present from the moment of conception, so Down syndrome is not something a person can develop after birth or later in life: You’re either born with it or you’re not. Also, bec...

What Is Down Syndrome? People with Down syndrome are born with an extra Down syndrome is a lifelong condition. Although it can’t be cured, doctors know more about it now than ever. If your child has it, getting the right care early on can make a big difference in helping them live a full and meaningful life. Down Syndrome Symptoms Down syndrome can have many effects, and it’s different for each person. Some will grow up to live almost entirely on their own, while others will need more help taking care of themselves. Mental abilities vary, but most people with Down syndrome have mild to moderate issues with thinking, reasoning, and understanding. They’ll learn and pick up new skills their whole lives, but they may take longer to reach important goals like walking, talking, and developing social skills. People with Down syndrome tend to have certain physical features in common. These may include: • • Small • Flat noses • Protruding • Tiny white spots in the colored part of the eyes • Short neck • Small hands and • Short stature • Loose joints • Weak muscle tone Many people with Down syndrome don’t have any other health issues, but some do. Common conditions include Down Syndrome Causes and Risk Factors For most people, each cell in your body has 23 pairs of chromosomes. One chromosome in each pair comes from your mother and the other comes from your father. But with Down syndrome, something goes wrong and you get an extra copy of chromosome 21. That means you have three copi...

Trisomy 21 is the most common chromosomal anomaly in humans, affecting about 5,000 babies born each year and more than 350,000 people in the United States. Also known as Down syndrome, trisomy 21 is a genetic condition caused by an extra chromosome. Most babies inherit 23 chromosomes from each parent, for a total of 46 chromosomes. Babies with Down syndrome however, end up with three chromosomes at position 21, instead of the usual pair. Other examples of trisomies occur at position 13 and 18. Trisomy 21 is the most common of the three, occurring in 1 out of every 691 births. The disorder was first identified in 1866 by John Langdon Down, a British physician, and later named after him. As your child with Down syndrome grows, he is at greater risk for certain medical problems and may develop: • • Gastrointestinal abnormalities • Musculoskeletal and movement problems • • Endocrinologic disorders • • Hearing loss • Speech apraxia (difficulty making speech sounds) • Sleep disorders • Feeding disorders • Developmental disabilities (learning disabilities, intellectual disabilities and autism) Problems in any of these areas can affect your child's development and behavior. Causes Down syndrome occurs because of the extra copy of chromosome 21, which can cause the body and brain to develop differently than a child without the syndrome. The risk of having a baby with Down syndrome increases as a woman ages — women older than 35 are often encouraged to have prenatal genetic testing ...

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