Trisomy 17 mosaicism

Common Name(s)

Trisomy 17 mosaicism, Chromosome 17, Trisomy Mosaicism

Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), a chromosomal abnormality in which an individual has three copies of chromosome 17 in all of cells of the body. Trisomy 17 has never been reported in any living individuals in the medical literature.  Only 23 cases of trisomy 17 mosaicism have been described, most of them have been detected during pregnancy (prenatally) through a test called amniocentesis. In most of these cases, the diagnosis of trisomy 17 mosaicism could not be confirmed in the baby after birth, leading some to propose that the abnormal cells detected in the prenatal test results may have come from tissues that are not part of the fetus in most cases. There have only been a handful of people in whom the diagnosis of trisomy 17 mosacism was confirmed after birth. Because the number of cells with trisomy 17 and the location of the tissues affected differ from case to case, the clinical signs and symptoms (if there are any) vary significantly from person to person. Symptom management is based on the personĂ•s clinical signs and medical needs.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trisomy 17 mosaicism" for support, advocacy or research.

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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trisomy 17 mosaicism" for support, advocacy or research.

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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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 "Trisomy 17 mosaicism" returned 1 free, full-text research articles on human participants. First 3 results:

Last Updated: 30 Sep 1969

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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 "Trisomy 17 mosaicism" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.