Diploid-Triploid Mosaicism

Common Name(s)

Diploid-Triploid Mosaicism

Diploid-triploid mosaicism is a chromosome disorder.  Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells).  Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated with  truncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth, mild differences in facial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation.    Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe.   The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells. 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Diploid-Triploid Mosaicism" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 4 Mar 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Diploid-Triploid Mosaicism" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2015

View Details

 

General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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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 "Diploid-Triploid Mosaicism" returned 1 free, full-text research articles on human participants. First 3 results:

[Diploid triploid mosaicism with epilepsy and mental retardation: exceptional survival up to adulthood].
 

Author(s): F J Carod-Artal, T V Fernandes da Silva

Journal: Rev Neurol. ;35(2):198-200.

 

Last Updated: 31 Dec 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 "Diploid-Triploid Mosaicism" returned 1 free, full-text review articles on human participants. First 3 results:

[Diploid/triploid mosaicism: a variable but characteristic phenotype].
 

Author(s): Daniel Natera-De Benito, Pilar Poo, Esther Gean, Asunción Vicente-Villa, Angels García-Cazorla, M Carmen Fons-Estupiña

Journal: Rev Neurol. 2014 Aug;59(4):158-63.

 

Diploid/triploid mosaicism is a rare chromosomal abnormality. It is caused by a failure in the postzygotic division during embryonic development. It results in the coexistence of two genetically heterogeneous cell lines (46,XX and 69,XXX) in one individual. His clinical phenotype ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.