Triploidy

Common Name(s)

Triploidy

Triploidy is a rare genetic condition where a baby inherits an extra set of chromosomes. Usually people have two pairs of chromosomes (two sets of 23 unique chromosomes for a total of 46 chromosomes). Babies with triploidy have a third set for a total of 69 chromosomes. Since chromosomes contain the genetic information that tells our bodies how to grow and behave, having extra copies causes serious growth and development problems with most triploidy pregnancies ending in miscarriage or stillbirth. Babies with triploidy who are born alive usually only live for a few days. Abnormal ultrasounds and maternal serum screening tests may suggest there is a chromosomal abnormality. However, the only way to determine if triploidy is present is to perform a karyotype, a special medical test that looks at the chromosomes present in a tissue sample. During the pregnancy, a CVS (samples the placenta) or amniocenteses (samples the baby's cells found in the amniotic fluid) can be used to check for chromosomal abnormalities such as triploidy. A more recent test, called noninvasive prenatal testing (NIPT) (samples baby's DNA or genetic material found in the mother's blood), may also be used prenatally but at present a follow up amniocentesis is advised. After the baby is born, a blood test would be performed. Babies with triploidy tend to be smaller in size and have fingers and/or toes that are joined together, but otherwise look normal. Triploidy is thought to occur when a sperm or egg with extra genetic material join together during fertilization. There is no way to prevent the condition from occurring and there is not cure or treatment. Couples who have experienced a triploidy pregnancy before are at no higher risk of having another triploidy pregnancy. However it is recommended that you talk to a genetic counselor or specialist if you have had a pregnancy affected by triploidy. Support groups are also good resources of support and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Triploidy" 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: 21 Jul 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Triploidy" 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: 21 Jul 2014

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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 "Triploidy" returned 33 free, full-text research articles on human participants. First 3 results:

Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.
 

Author(s): I Manokhina, C W Hanna, M D Stephenson, D E McFadden, W P Robinson

Journal: Mol. Hum. Reprod.. 2013 Aug;19(8):539-44.

 

Maternal effect genes control early events of embryogenesis. Maternal homozygous and compound mutations in two such genes, NLRP7 and c6orf221, have been detected in the majority of women experiencing recurrent biparental hydatidiform moles. It was suggested that other forms of reproductive ...

Last Updated: 17 Jul 2013

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A case of near-triploidy in myelodysplastic syndrome with del(5q) combined with del(1p) and del(13q).
 

Author(s): Bo-Ram Kim, Ji-Eun Kim, Kwang-Sook Woo, Kyeong-Hee Kim, Jeong-Man Kim, Suee Lee, Lisa G Shaffer, Jin-Yeong Han

Journal: Ann Lab Med. 2012 Jul;32(4):294-7.

 

Numerical and structural chromosomal abnormalities are common in hematological malignancies. Near-triploidy (58-80 chromosomes) is a numerical abnormality observed in 3% of adult cases of acute lymphoblastic leukemia. Near-triploidy is rare in myeloid lineage hematologic malignancies ...

Last Updated: 10 Jul 2012

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Nasal bone length in trisomy 18, triploidy and Turner syndrome analyzed on postmortem radiographs.
 

Author(s): R G Mentz, U Engel, I Kjaer

Journal: Ultrasound Obstet Gynecol. 2009 Nov;34(5):607-8.

 

Last Updated: 28 Oct 2009

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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 "Triploidy" returned 4 free, full-text review articles on human participants. First 3 results:

Triploidy--the breakdown of monogamy between sperm and egg.
 

Author(s): Hey-Joo Kang, Zev Rosenwaks

Journal: Int. J. Dev. Biol.. 2008 ;52(5-6):449-54.

 

The advent of assisted reproductive technology (ART) has taught us a great deal about human fertilization patterns. Thirty years of experience with IVF and cultivation of early embryos has provided a unique view into the mechanisms of normal and aberrant human fertilization. Here ...

Last Updated: 23 Jul 2008

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Hydatidiform mole and triploidy: the role of genomic imprinting in placental development.
 

Author(s): Koen Devriendt

Journal: Hum. Reprod. Update. ;11(2):137-42.

 

Genomic imprinting, the differential expression of paternal and maternal alleles, is involved in the regulation of embryonic and fetal growth and development. In this review, we focus on the genetics of a disorder caused by a global defect in genomic imprinting, the hydatidiform mole. ...

Last Updated: 3 Mar 2005

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Diploid sperm and the origin of triploidy.
 

Author(s): S Egozcue, J Blanco, F Vidal, J Egozcue

Journal: Hum. Reprod.. 2002 Jan;17(1):5-7.

 

Trisomy 16, the 45,X monosomy and triploidy are the more frequent chromosome anomalies in spontaneous abortions. Earlier estimations, based on frequencies of diandric triploidy at conception, resulted in a good correlation with the frequencies of diploid sperm in infertile males (up ...

Last Updated: 28 Dec 2001

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.