Mosaic Down Syndrome

Common Name(s)

Mosaic Down Syndrome

Mosaic Down syndrome is a form of down syndrome where only some of the cells have an extra copy of the 21st chromosome, while others have the normal number of all of the chromosomes. (For more information, see Down syndrome). 2-4% of people with Down syndrome have mosaic Down syndrome. Little research has been done on mosaic Down syndrome, so some individuals who have been diagnosed with Down syndrome may actually have mosaic Down syndrome. Symptoms of mosaic Down syndrome depend on which and how many cells have extra copies of chromosome 21, but may include intellectual disability and slow speech or motor development. Mosaic down syndrome can only be diagnosed through a blood test, and most children are diagnosed between 1-4 years of age.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mosaic Down Syndrome" for support, advocacy or research.

ACDS

ACDS is dedicated to providing lifetime resources of exceptional quality, innovation and inclusion for individuals with Down syndrome and other developmental disabilities and their families.

Last Updated: 29 Apr 2014

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Down Syndrome Association of Acadiana

The mission of the Down Syndrome Association of Acadiana (DSAA), a non-profit organization, is to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome, their families, and our community.

Last Updated: 24 Apr 2013

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Down Syndrome Association of Greater St. Louis

The mission of the Down Syndrome Association of Greater St. Louis is to benefit the lives of people with Down syndrome and their families through individual and family support, education, public awareness and advocacy.

Last Updated: 28 Mar 2013

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Down Syndrome Information Alliance

The Down Syndrome Information Alliance provides support and resources to empower individuals with Down syndrome, their families, and our community.

Last Updated: 1 Mar 2013

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Down Syndrome Research Foundation

The mission of the Down Syndrome Research Foundation is to empower individuals with Down syndrome to reach their full potential throughout life by pioneering and providing educational programs and services, grounded in foundational research. Working with researchers, professionals and families, we are a bridge between research and practice.

Last Updated: 29 Apr 2014

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Hope for Trisomy 13 and 18

OUR MISSION The mission of Hope For Trisomy is to 1) FUND RESEARCH for rare trisomies and related chromosome disorders; 2) PROMOTE EDUCATION by developing programs that educate parents of children with Trisomy about options available to their child and teach them how to advocate for their child to receive all available treatment; 3) RAISE AWARENESS by creating and contributing to materials, literature, workshops, seminars, and conferences to educate the medical health professionals, the parents, and the public about Trisomy, so they have accurate and current information and resources available

Last Updated: 7 Aug 2013

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National Down Syndrome Congress

The mission of the NDSC is to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome.

Last Updated: 8 Nov 2012

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Oklahoma Family Network

To Provide emotional, informational and navigational support to those who have special health care needs or a disability, their families and the professionals who serve them. OFN promotes family/professional partnerships and family-centered care, assuring services are offered as recipients prefer..

Last Updated: 15 Apr 2013

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Rocky Mountain Down Syndrome Association

To assure inclusion and enhance independence of people with Down syndrome. We achieve this by providing education, resources and support in partnership with individuals, families, professionals, and the community.

Last Updated: 15 Apr 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mosaic Down Syndrome" for support, advocacy or research.

ACDS

ACDS is dedicated to providing lifetime resources of exceptional quality, innovation and inclusion for individuals with Down syndrome and other developmental disabilities and their families.

http://www.acds.org

Last Updated: 29 Apr 2014

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Down Syndrome Association of Acadiana

The mission of the Down Syndrome Association of Acadiana (DSAA), a non-profit organization, is to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome, their families, and our community.

http://www.dsaa.info

Last Updated: 24 Apr 2013

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Down Syndrome Association of Greater St. Louis

The mission of the Down Syndrome Association of Greater St. Louis is to benefit the lives of people with Down syndrome and their families through individual and family support, education, public awareness and advocacy.

http://www.dsagsl.org

Last Updated: 28 Mar 2013

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Down Syndrome Information Alliance

The Down Syndrome Information Alliance provides support and resources to empower individuals with Down syndrome, their families, and our community.

http://downsyndromeinfo.org/

Last Updated: 1 Mar 2013

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Down Syndrome Research Foundation

The mission of the Down Syndrome Research Foundation is to empower individuals with Down syndrome to reach their full potential throughout life by pioneering and providing educational programs and services, grounded in foundational research. Working with researchers, professionals and families, we are a bridge between research and practice.

http://dsrf.org

Last Updated: 29 Apr 2014

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Hope for Trisomy 13 and 18

OUR MISSION The mission of Hope For Trisomy is to 1) FUND RESEARCH for rare trisomies and related chromosome disorders; 2) PROMOTE EDUCATION by developing programs that educate parents of children with Trisomy about options available to their child and teach them how to advocate for their child to receive all available treatment; 3) RAISE AWARENESS by creating and contributing to materials, literature, workshops, seminars, and conferences to educate the medical health professionals, the parents, and the public about Trisomy, so they have accurate and current information and resources available

http://www.hopefortrisomy13and18.org

Last Updated: 7 Aug 2013

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National Down Syndrome Congress

The mission of the NDSC is to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome.

http://www.ndsccenter.org

Last Updated: 8 Nov 2012

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Oklahoma Family Network

To Provide emotional, informational and navigational support to those who have special health care needs or a disability, their families and the professionals who serve them. OFN promotes family/professional partnerships and family-centered care, assuring services are offered as recipients prefer..

http://www.oklahomafamilynetwork.org

Last Updated: 15 Apr 2013

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Rocky Mountain Down Syndrome Association

To assure inclusion and enhance independence of people with Down syndrome. We achieve this by providing education, resources and support in partnership with individuals, families, professionals, and the community.

http://www.rmdsa.org/

Last Updated: 15 Apr 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mosaic Down Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

The origin of mosaic Down syndrome: four cases with chromosome markers.
 

Author(s): N Niikawa, T Kajii

Journal: Am. J. Hum. Genet.. 1984 Jan;36(1):123-30.

 

Four children, a girl and three boys, with diploid/trisomic mosaic Down syndrome were studied for the mechanism of origin of mosaics, using Q- and R-banding heteromorphisms as markers. Three mosaic subjects started as a trisomic zygote followed by the loss of a chromosome 21 at an ...

Last Updated: 5 Mar 1984

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Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome.
 

Author(s): A R Gatrad

Journal: J. Med. Genet.. 1981 Apr;18(2):148-51.

 

Last Updated: 20 Aug 1981

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mosaic Down Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.