Is Down syndrome a flaw in DNA transcription translation or is it a form of gene suppression or expression?

Conclusions. In Down syndrome, there is a primary transcriptional effect of disruption of chromosome 21 gene expression, without a pervasive secondary effect on the remaining transcriptome. The identification of dysregulated genes and pathways suggests molecular changes that may underlie the Down syndrome phenotypes.

Is Down syndrome a form of gene expression?

It is common knowledge among medical professionals that Down syndrome is characterized by an extra copy of chromosome (chr) 21. Thus, the conventional thinking has been that the constellation of Down syndrome phenotypes is caused by over-expression of trisomy chr 21 genes.

Is there gene therapy for Down syndrome?

New Genetic Therapy Could Erase Down Syndrome : NPR. New Genetic Therapy Could Erase Down Syndrome The journal Nature reports that researchers may have found a way to correct the chromosome defect that causes Down syndrome, though it will be years before it could be used as a therapy.

Can a Down syndrome child look normal?

Some of the children with Mosaic Down syndrome that we know do not actually look as if they have Down syndrome – the usual physical features are not obvious. This raises some important and difficult social issues and identity issues for both parents and children, which parents have discussed with us.

What are the signs of Down syndrome during pregnancy?

Some common physical signs of Down syndrome include:

  • Flat face with an upward slant to the eyes.
  • Short neck.
  • Abnormally shaped or small ears.
  • Protruding tongue.
  • Small head.
  • Deep crease in the palm of the hand with relatively short fingers.
  • White spots in the iris of the eye.
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What are the 3 types of Down syndrome?

There are three types of Down syndrome:

  • Trisomy 21. This is by far the most common type, where every cell in the body has three copies of chromosome 21 instead of two.
  • Translocation Down syndrome. In this type, each cell has part of an extra chromosome 21, or an entirely extra one. …
  • Mosaic Down syndrome.

Can trisomy 21 be cured?

There is no cure for Down syndrome, but treatment is available to help your child. Your child may need physical, occupational, and speech therapy to help with their development. Many children are helped with early intervention and special education.

Why is Down syndrome not curable?

Down syndrome is a random occurrence in nature. It has no cure or prevention measures. Down syndrome is not a disease, disorder, defect or medical condition and therefore does not require treatment, prevention or a cure.

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