Down Syndrome Diagnosis

November 17, 2008  |  Information

Diagnosis

Down syndrome is usually identified at birth or shortly thereafter. Initially the diagnosis is based on physical characteristics that are commonly seen in babies with Down syndrome. These include low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. The diagnosis must be confirmed by a chromosome study (karyotype). A karyotype provides a visual display of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells.

Information and Resources
That which we do today will echo throughout the generations to come

That which we do today will echo throughout the generations to come

This is an amazing guest post from a former educator and parent of a child with down syndrome.... Down syndrome education Rebecca Frederick-Jilg One of our wonderful visitors wrote in asking for activities to do with a group of people to help them get an understanding of what it might be like to more

What is Down Syndrome?

What is Down Syndrome?

What is Down syndrome? Down syndrome is a developmental disorder caused by an extra copy of chromosome 21.  This disorder is caused by an error in cell division that results in an extra 21st chromosome. Having an extra copy of this chromosome means that each gene may be producing more protein more

What Causes Down Syndrome?

What Causes Down Syndrome?

What causes Down syndrome? Normally in reproduction, the egg cell of the mother and the sperm cell of the father start out with the usual number of 46 chromosomes. The egg and sperm cells undergo cell division where the 46 chromosomes are divided in half and the egg and the sperm more

Books and Videos Relating to Down Syndrome

Books and Videos Relating to Down Syndrome

Down Syndrome: The First 18 Months Director: Will Schermerhorn Studio: Blueberry Shoes Productions LLC, DVD Release Date: December 23, 2003 Woodbine House is very pleased to bring you this video, created by Will Schermerhorn, and filled with adorable images of babies with Down syndrome, inspiring stories of parents, and practical information from the more

History of Down Syndrome

History of Down Syndrome

History of Down' Syndrome In 1959 Professor Jerome Lejeune, a geneticist in Paris, discovered that Down Syndrome occurred as a result of a trisomy of chromosome 21. This means that instead of the usual 46 chromosomes in the cells of the body, there is an extra chromosome 21, making 47 chromosomes more

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2 Comments


  1. i have family with ds and it is amazinghow fast they learn.

  2. hi, my names alexa and my friend and i are doing a project on downsyndrome and i would like to know if you could give me any information about anyone you know having downsyndrome. It would greatly appreciated!

    you can email me at: bapper27@aim.com
    or my friends email: lexmill2009@yahoo.com

Trackbacks

  1. Down Syndrome Diagnosis and Genetic Tests | DownSyndrome.com
  2. What is Down Syndrome? | DownSyndrome.com
  3. Down Syndrome Learning | DownSyndrome.com
  4. Down Syndrome Fact or Fiction | DownSyndrome.com

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