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Doctor insights on: What Chromosome Is Affected By Down Syndrome

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Is Down syndrome always caused by a defect in the 21 chromosome?

Is Down syndrome always caused by a defect in the 21 chromosome?

Extra chromosome 21.: Either complete or partial trisomy for chromosome 21 is always responsible for down syndrome. ...Read more

Dr. Kathryn Akin
619 doctors shared insights

Down Syndrome (Definition)

Down syndrome is a genetic condition in which there is an extra chromosome present. Symptoms may range from mild to severe. Children with Down syndrome share a common physical appearance including a flattened nose, small ears, a small mouth, upward slanting eyes, and a single crease in the ...Read more

Dr. Keith Vaux
Board Certified, Clinical Genetics
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What would be a good way to cure down syndrome? What would be a way to remove the extra chromosome from every cell in the body? I need a good idea. Thanks :)

It : It is true that there is no such treatment today that would allow to remove an extra chromosome from every single cell in the body. However, for someone who is looking for ideas, there are several to explore. One idea would be to use antisense oligonucleotides to reduce expression of certain genes in the additional chromosome. This approach has been gaining momentum lately and there are already two or more antisense oligonucleotide-based drugs that have been approved by fda. An example of genes that could be targeted with antisense in down's syndrome could be the gene responsible for the amyloid production. It is known that patients with down's syndrome develop significant amyloid deposits early in their lives. These deposits (they are also found in alzheimer's disease brains) impact overall function and quality of life of these patients. One could expect that reducing amyloid deposits related to the extra chromosome could improve their quality of life. There are many sources of information on antisense oligonucleotide technology and wikipedia is one of them. ...Read more

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Dr. Keith Vaux
Board Certified, Clinical Genetics
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Living with Down Syndrome (Checklist)

Get genetic counseling.
Once
Enroll in early intervention program.
Once
Get help from local and national support groups.
Once
Consider help from mental health workers.
Once
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Why do Down syndrome patient have their eyes slanted upward, is it caused by the chromosome 21, i need an explanation on why their face look different?

Why do Down syndrome patient have their eyes slanted upward, is it caused by the chromosome 21, i need an explanation on why their face look different?

In the genes: All of our features are determined by our genes. The appearance of your eyes, nose, mouth, hair color, skin color, among other features are all inherited. When there is a defect in the gene coding, changes can occur. Facial features can change with in utero exposure such as alcohol (fas syndrome). For downs, the extra 21 causes low ears, slanted eyes, simian crease as well as organ problems. ...Read more

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What are the chances my child will be born with chromosomal abnormalities? I was told my unborn child has echogenic bowels, that i tested higher for the risk of Down syndrome and as a carrier of the cystic fibrosis trait

There : There are several ultrasound findings that can suggest down sysndrome, and echogenic bowel is one of them. There could be other explanations for that finding, though. It sound like you will need some testing to find out what's going on. The two tests used most commonly are amniocentesis and chorionic villous sampling. Each has its own risks and benefits, so you should discuss them with your obstetrician. I would suggest that you do this sooner than later, and regardless of whether the outcome might lead you to terminate the pregnancy. ...Read more

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Living with Down Syndrome (Checklist)

Learn about Down's syndrome
once
Create Family/friend support
once
Join networks.like the Arc or DSA
once
Board Certified, Clinical Genetics
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Which type of chromosomal mutation causes down syndrome?

Which type of chromosomal mutation causes down syndrome?

Not mutation,number : Down syndrome is an abnormality of chromosome numbers, not a trait or mutation in the gene code. During conception only one of chromosome of each pair is given by both parents to the fertile egg.If a parent adds their 2 nbr 21chm to the other parents nbr 21, 3 end up in the egg ; the excess 21 causes the all the problems.Rare forms are causes by a extra piece of a 21, but that's another issue. ...Read more

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What body systems are affected by down syndrome?

What body systems are affected by down syndrome?

Multi-system: Heart, thyroid, eyes, iq are the most common to be affected. The child may have a slight problem or a significant impairment in one or several of those areas. ...Read more

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Living with Down Syndrome (Checklist)

Read "Welcome to Holland"
once
Find and access early intervention
daily
Ask your doctor to use Down Syndrome growth charts
once
Ask your doctor for the latest Down Syndrome Health maintenance guide
once
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Which parts of the nervous system are affected by down syndrome?

Which parts of the nervous system are affected by down syndrome?

Confusing question: Every cell of the nervous system has the ds chromosome pattern so the point of your question is confusing their brain acquires & processes information in a qualitatively different way. They acquire words/language & developmental milestones later. If you have a more specific question, start over & define it clearly. ...Read more

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Dr. Keith Vaux
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