Recessive gene down syndrome

This is a rare genetic condition that affects about 1 in every 20,000 babies. People with this condition only have one normal copy of chromosome 21.

This means that both copies of chromosome 21 are present but, because they’re not the same, people with this condition can’t get to the same parts of the chromosome because they’re not the same.

This means that people with this condition have the same number of genes on one chromosome as people with Down syndrome have on two copies of chromosome 21. This is called a partial trisomy.

People with this condition can have:

  • Intellectual disabilities
  • Small stature
  • Hearing loss
  • Heart defects
  • Respiratory distress
  • Other physical features

How to help a person with Down syndrome?

There are a number of ways you can help someone with Down syndrome.

Your actions can help a child with Down syndrome:

  • Have the same quality of life as other children
  • Feel more comfortable with friends and peers
  • Have the same activities as other children
  • Have the same abilities as other children
  • Develop a sense of self

You can also help a child with Down syndrome with:

  • Getting the most appropriate medical care
  • Helping the child understand that they have Down syndrome
  • Helping the child understand that their medical care will be different from others

If a child is not having a good time at school, do something to help them stay focused.

For example:

  • Make sure they take part in the planned playdates
  • Help them manage their time at school
  • Help them find activities that interest them
  • Set up a special class for them at school

What’s the outlook for someone with Down syndrome?

The outlook for someone with Down syndrome varies greatly from person to person.

For example, some people with Down syndrome have no other physical or intellectual disabilities. Others have other intellectual disabilities.

Some people have a mild form of Down syndrome. They may have many of the physical and intellectual disabilities of people with more severe forms of the syndrome.

Some people with Down syndrome die in their 30s or 40s. Others live well into their 80s.

What is the difference between Down syndrome and autism?

There are many similarities between people with Down syndrome and those with autism. The two conditions differ in other ways.

People with Down syndrome:

  • Need help walking
  • Need help using verbal communication skills
  • Need help using nonverbal communication skills
  • Have physical coordination challenges
  • May not have the same skills as other children

People with autism:

  • Have trouble with social communication
  • Have difficulties with understanding and using communication and language

What is the difference between Down syndrome and the holoprosencephaly syndrome?

The holoprosencephaly syndrome is a rare genetic condition that affects the brain and spine.

It’s caused by a genetic mutation, which is a change in the number of chromosomes. This can happen when a cell divides, usually during a pregnancy. Changes to the number of chromosomes can also happen due to:

  • Spontaneous abortion
  • Sporadic mutations
  • Inherited genetic disorders

This syndrome affects about 1 in every 10,000 babies.

The symptoms of the holoprosencephaly syndrome are:

  • Brain malformations
  • Spinal defects
  • Heart problems
  • Kidney abnormalities

What causes Down syndrome?

Doctors don’t know the exact cause of Down syndrome. However, it’s believed that genetics plays a role.

The number of chromosome copies is the main factor. If a person only has one copy of chromosome 21, they are usually affected with Down syndrome. However, if they have two copies of chromosome 21, they have an increased risk of having other conditions, such as:

  • Fragile X syndrome
  • Williams syndrome
  • Turner syndrome
  • Klinefelter syndrome

Scientists have also identified two genes that are linked with Down syndrome. However, scientists don’t know why these genes cause Down syndrome.

The genes are:

  • POF1
  • POF2

How is Down syndrome diagnosed?

A doctor will first try to rule out other conditions if there is no clear reason to suspect Down syndrome. They may order:

Genetic tests to check the number of chromosomes and their structure and to look for any of the genes linked with Down syndrome

Imaging tests, such as an MRI or ultrasound, to check for brain abnormalities

A physical exam to check for physical abnormalities

In some cases, doctors may need to order more tests to check for other conditions that may be causing the symptoms.

How is Down syndrome treated?

There is no cure for Down syndrome. However, people with Down syndrome can live long, healthy lives.

The following treatments may help:

  • Physical therapy to help with coordination
  • Speech therapy to help with communication
  • Occupational therapy to help with activities of daily living
  • Medical treatments, such as hormones and medications

You can also help a person with Down syndrome by:

  • Helping them understand that they have Down syndrome
  • Helping them manage their time at school
  • Helping them find activities that interest them

People with Down syndrome may have:

  • A sense of self
  • Physical coordination
  • Social skills
  • A sense of humor

How can I help someone with Down syndrome?

The following are some ways you can help someone with Down syndrome:

  • Help them understand that they have Down syndrome
  • Help them understand that their medical care will be different from others
  • Help them organize their time at school

You can also share this fact sheet with your friends and family.

If you’re a parent, you can help your child with Down syndrome by explaining that he or she has Down syndrome.

You can also explain to your child that when they need to use a special device, they can use these devices.

A doctor or therapist can help a person with Down syndrome learn to use these devices.

What is the outlook for someone with Down syndrome?

The outlook for someone with Down syndrome varies greatly. Some people may not have any other major medical conditions. Others may have several other conditions.

The outlook for people with Down syndrome is getting better in recent years. With advances in medical technology, the outlook is improving.

People with Down syndrome face many challenges, such as:

  • Feeling anxious about social interactions
  • Having trouble communicating verbally or using nonverbal communication
  • Having trouble coordinating their movements
  • Having short attention spans
  • Having a hard time paying attention
  • Being noncommunicative
  • Struggling with self-esteem
  • Not wanting to wear a seat belt or be in a car
  • Being unable to complete school assignments or read
  • Having difficulty in school
  • Not wanting to participate in physical activities
  • Not wanting visitors or friends

If you have a child with Down syndrome, you can help by:

  • Helping your child understand that they have Down syndrome
  • Helping your child understand that their care will be different from others
  • Helping your child organize their time at school

Your child needs to learn a lot of new skills. It’s important that they feel safe and supported. You can help them learn these skills.

The outlook for people with Down syndrome will always depend on their condition and how they handle situations.

Related conditions

Down syndrome and other genetic conditions are related. Many of these conditions are caused by the same genes.

Some of the other genetic conditions related to Down syndrome include:

  • Prader-Willi syndrome
  • Angelman syndrome
  • Rett syndrome
  • Smith-Lemli-Opitz syndrome
  • Cornelia de Lange syndrome

What is Down syndrome?

Down syndrome is a genetic disorder. It involves having a different number of chromosomes than usual.

A person with Down syndrome has one extra copy (copy number) of chromosome 21.

Down syndrome is often called “syndrome X.” This is because there are many other genetic conditions that are associated with it. These conditions include:

  • Fragile X
  • Turner
  • Williams
  • Klinefelter
  • Angelman

Syndromes X and Y are the same condition. Most people with Down syndrome have both syndromes.

The genetic conditions associated with Down syndrome are:

  • Prader-Willi
  • Rett
  • Smith-Lemli-Opitz
  • Cornelia de Lange

Who gets Down syndrome?

Most people with Down syndrome have a brother or sister. Some people may also have another genetic condition.

About 50 to 75 percent of people with Down syndrome also have a chromosome abnormality. This abnormal condition is called trisomy 21.

The other 25 to 50 percent of people with Down syndrome have no abnormalities.

The bottom line

Down syndrome is a genetic disorder that can affect a person’s physical and intellectual functioning.

It’s passed down from parents to children. It is not contagious.

If your friend or family member has Down syndrome, you can help them by:

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