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: 28 Jun 2016

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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: 28 Jun 2016

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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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General Resources

Adult Sibling Toolkit

Siblings can use this information to be an effective advocate and perhaps, caregiver, after their parents are no longer able.

Updated 28 Jun 2016

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AAP Healthcare guidlines for families

A family-friendly version of the American Academy of Pediatrics healthcare guidelines in checklist format

Updated 28 Jun 2016

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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 5 free, full-text research articles on human participants. First 3 results:

Birth of a healthy child after preimplantation genetic screening of embryos from sperm of a man with non-mosaic Down syndrome.
 

Author(s): Lusine Aghajanova, Jean M Popwell, Ryszard J Chetkowski, Christopher N Herndon

Journal: J. Assist. Reprod. Genet.. 2015 Sep;32(9):1409-13.

 

The purpose of this study is to present a case of healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with preimplantation genetic screening (PGS) using sperm from a man with non-mosaic trisomy 21 and a literature review.

Last Updated: 7 Oct 2015

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Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.
 

Author(s): Aoife Murray, Audrey Letourneau, Claudia Canzonetta, Elisavet Stathaki, Stefania Gimelli, Frederique Sloan-Bena, Robert Abrehart, Pollyanna Goh, Shuhui Lim, Chiara Baldo, Franca Dagna-Bricarelli, Saad Hannan, Martin Mortensen, David Ballard, Denise Syndercombe Court, Noemi Fusaki, Mamoru Hasegawa, Trevor G Smart, Cleo Bishop, Stylianos E Antonarakis, J├╝rgen Groet, Dean Nizetic

Journal: Stem Cells. 2015 Jun;33(6):2077-84.

 

Trisomy 21 (T21), Down Syndrome (DS) is the most common genetic cause of dementia and intellectual disability. Modeling DS is beginning to yield pharmaceutical therapeutic interventions for amelioration of intellectual disability, which are currently being tested in clinical trials. ...

Last Updated: 21 May 2015

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Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation.
 

Author(s): Shun-Jen Tan, Chi-Huang Chen, Chih-Ping Chen, Chun-Wen Chen, Cheng-Yu Chen, Kwei-Shuai Hwang

Journal: Taiwan J Obstet Gynecol. 2012 Mar;51(1):109-11.

 

Last Updated: 9 Apr 2012

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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 Genetics Home Reference.

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.