Tetraploidy

Common Name(s)

Tetraploidy

Tetraploidy is a very rare condition where a baby has four copies of each chromosome. People have 23 distinct chromosomes, and normally, people only have two copies of each chromosome (46 total chromosomes). Babies with tetraploidy have four copies of each chromosome,for a total of 92 chromosomes. Since chromosomes contain the genetic information that tells our bodies how to grow and behave, having extra copies can cause serious growth and development problems. Tetraploidy usually causes a miscarriage very early on in pregnancy. Sometimes, the tetraploidy is not found in every cell and this is called diploid/tetraploid mosaic. This baby will have the normal two copies of chromsomes in some cells and four copies of chromosomes in other cells. Babies with diploid/tetraploid mosaic have severe mental and physical diabilities. There have been six reported cases of babies with non-mosaic tetraploidy (all of the baby's cells have the abnormal four copies of every chromosome). Most died within a few days or months. Three lived past 12 months, with one living beyond 24 months (2 years). This little girl had facial abnormalities and severe developmental and growth delays as well as mutiple birth defects. The only way to determine if a baby has tetraploidy is to count the number of chromosomes using a karyotype, a medical test that looks at the chromosomes present in a person's tissue sample (usually a blood sample or if suspected prenatally from a sample from a CVS or amniocentesis). Although there is currently no cure for tetraploidy, there are various resources to help manage the condition and treat birth defects. Talk with your baby's doctor to decide on the best treatment plan for your baby. The risk of tetraploidy happening again in future pregnancies is believed to be low, but talking to a genetic counselor or specialist is the best way to get the most up to date information.

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Condition Specific 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 "Tetraploidy" returned 25 free, full-text research articles on human participants. First 3 results:

Two cases of near-tetraploidy in acute leukemias of ambiguous lineage.
 

Author(s): Bo Hyun Kim, Hye Ryoun Kim, Mi-Kyung Lee, Hyunyoung Chi

Journal: Ann Lab Med. 2013 Sep;33(5):371-4.

 

Last Updated: 4 Sep 2013

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Tetraploidy in hydatidiform moles.
 

Author(s): Linda Sundvall, Helle Lund, Isa Niemann, Uffe Birk Jensen, Lars Bolund, Lone Sunde

Journal: Hum. Reprod.. 2013 Jul;28(7):2010-20.

 

How does tetraploidy develop in hydatidiform moles (HMs), and what is the frequency of the different origins?

Last Updated: 19 Jun 2013

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Constitutive Cdk2 activity promotes aneuploidy while altering the spindle assembly and tetraploidy checkpoints.
 

Author(s): Stephan C Jahn, Patrick E Corsino, Bradley J Davis, Mary E Law, Peter Nørgaard, Brian K Law

Journal: J. Cell. Sci.. 2013 Mar;126(Pt 5):1207-17.

 

The cell has many mechanisms for protecting the integrity of its genome. These mechanisms are often weakened or absent in many cancers, leading to high rates of chromosomal instability in tumors. Control of the cell cycle is crucial for the function of these checkpoints, and is frequently ...

Last Updated: 26 Apr 2013

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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 "Tetraploidy" returned 3 free, full-text review articles on human participants. First 3 results:

A novel hypothesis for Alzheimer disease based on neuronal tetraploidy induced by p75 (NTR).
 

Author(s): José M Frade, Noelia López-Sánchez

Journal: Cell Cycle. 2010 May;9(10):1934-41.

 

Cumulative evidence indicates that neuronal cell cycle re-entry represents an early and critical event in AD, recapitulating known hallmarks of the disease including tau hyperphosphorylation and production of Aβ peptide-containing plaques. Neurons that duplicate their DNA are rarely ...

Last Updated: 11 Jan 2011

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The consequences of tetraploidy and aneuploidy.
 

Author(s): Zuzana Storchova, Christian Kuffer

Journal: J. Cell. Sci.. 2008 Dec;121(Pt 23):3859-66.

 

Polyploidy, an increased number of chromosome sets, is a surprisingly common phenomenon in nature, particularly in plants and fungi. In humans, polyploidy often occurs in specific tissues as part of terminal differentiation. Changes in ploidy can also result from pathophysiological ...

Last Updated: 21 Nov 2008

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Tetraploidy in a liveborn infant.
 

Author(s): I López Pajares, A Delicado, A Diaz de Bustamante, A Pellicer, I Pinel, M Pardo, M Martin

Journal: J. Med. Genet.. 1990 Dec;27(12):782-3.

 

We report a 3 month old boy with tetraploidy, found in peripheral blood and skin fibroblast cultures, with severely delayed growth and neurodevelopment, and with a cleft lip; these findings have not been described before. This report brings to seven the total number of liveborn infants ...

Last Updated: 12 Apr 1991

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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