47 XXX Syndrome

Common Name(s)

47 XXX Syndrome, 47, XXX

47 XXX syndrome, also called trisomy X, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. It is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Treatment typically focuses on individual signs and symptoms that a person may have. Some females with trisomy X have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "47 XXX Syndrome" for support, advocacy or research.

Klinefelter Syndrome & Associates, Inc.

KS&A’s mission is to help individuals with one or more extra X and/or Y chromosomes and their families lead fuller and more productive lives. http://www.genetic.org/About/MissionStatement.aspx

Last Updated: 1 Nov 2014

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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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The Focus Foundation

The Focus Foundation is dedicated to helping children and families affected by X & Y Variations, Dyslexia, and/or Developmental Dyspraxia. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential.

Last Updated: 31 Mar 2015

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Triple X Support Group

Our mission is to inform parents and professionals about Triple X Syndrome and to raise awareness and earlier diagnoses.

Last Updated: 24 Nov 2009

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "47 XXX Syndrome" for support, advocacy or research.

Klinefelter Syndrome & Associates, Inc.

KS&A’s mission is to help individuals with one or more extra X and/or Y chromosomes and their families lead fuller and more productive lives. http://www.genetic.org/About/MissionStatement.aspx

http://www.genetic.org

Last Updated: 1 Nov 2014

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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

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The Focus Foundation

The Focus Foundation is dedicated to helping children and families affected by X & Y Variations, Dyslexia, and/or Developmental Dyspraxia. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential.

http://www.thefocusfoundation.org/

Last Updated: 31 Mar 2015

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Triple X Support Group

Our mission is to inform parents and professionals about Triple X Syndrome and to raise awareness and earlier diagnoses.

http://triplexsupportgroup.homestead.com/TripleXWebPage.html

Last Updated: 24 Nov 2009

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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 "47 XXX Syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.
 

Author(s): Ke Liu, Biji T Kurien, Sarah L Zimmerman, Kenneth M Kaufman, Diana H Taft, Leah C Kottyan, Sara Lazaro, Carrie A Weaver, John A Ice, Adam J Adler, James Chodosh, Lida Radfar, Astrid Rasmussen, Donald U Stone, David M Lewis, Shibo Li, Kristi A Koelsch, Ann Igoe, Mitali Talsania, Jay Kumar, Jacen S Maier-Moore, Valerie M Harris, Rajaram Gopalakrishnan, Roland Jonsson, James A Lessard, Xianglan Lu, Jacques-Eric Gottenberg, Juan-Manuel Anaya, Deborah S Cunninghame-Graham, Andrew J W Huang, Michael T Brennan, Pamela Hughes, Gabor G Illei, Corinne Miceli-Richard, Edward C Keystone, Vivian P Bykerk, Gideon Hirschfield, Gang Xie, Wan-Fai Ng, Gunnel Nordmark, Per Eriksson, Roald Omdal, Nelson L Rhodus, Maureen Rischmueller, Michael Rohrer, Barbara M Segal, Timothy J Vyse, Marie Wahren-Herlenius, Torsten Witte, Bernardo Pons-Estel, Marta E Alarcon-Riquelme, Joel M Guthridge, Judith A James, Christopher J Lessard, Jennifer A Kelly, Susan D Thompson, Patrick M Gaffney, Courtney G Montgomery, Jeffrey C Edberg, Robert P Kimberly, Graciela S Alarcón, Carl L Langefeld, Gary S Gilkeson, Diane L Kamen, Betty P Tsao, W Joseph McCune, Jane E Salmon, Joan T Merrill, Michael H Weisman, Daniel J Wallace, Tammy O Utset, Erwin P Bottinger, Christopher I Amos, Katherine A Siminovitch, Xavier Mariette, Kathy L Sivils, John B Harley, R Hal Scofield

Journal: Arthritis Rheumatol. 2016 May;68(5):1290-1300.

 

More than 80% of autoimmune disease predominantly affects females, but the mechanism for this female bias is poorly understood. We suspected that an X chromosome dose effect accounts for this, and we undertook this study to test our hypothesis that trisomy X (47,XXX; occurring in ...

Last Updated: 28 Apr 2016

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A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome.
 

Author(s): R K Lenroot, J D Blumenthal, G L Wallace, L S Clasen, N R Lee, J N Giedd

Journal: Genes Brain Behav.. 2014 Nov;13(8):841-9.

 

Trisomy X, the presence of an extra X chromosome in females (47,XXX), is a relatively common but under-recognized chromosomal disorder associated with characteristic cognitive and behavioral features of varying severity. The objective of this study was to determine whether there were ...

Last Updated: 21 Nov 2014

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Autoimmune myelofibrosis accompanied by Sjögren's syndrome in a 47, XXX/46, XX mosaic woman.
 

Author(s): Tohru Takahashi

Journal: Intern. Med.. 2014 ;53(7):783-7.

 

This report describes a patient with autoimmune myelofibrosis accompanied by Sjögren's syndrome (SS). A 36-year-old woman was admitted due to petechiae, purpura, gingival bleeding, dyspnea on exertion, and a lack of concentration. She had pancytopenia and was diagnosed with SS. A ...

Last Updated: 3 Apr 2014

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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 "47 XXX Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome.
 

Author(s): V P Sybert

Journal: J. Med. Genet.. 2002 Mar;39(3):217-20.

 

Last Updated: 18 Mar 2002

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers
 

Status: Recruiting

Condition Summary: XXY (Klinefelter); Sex Chromosome Variation; Sex Chromosome Aneuploidy; XXXY; XXXXXY; XYY (Jacob); XXYY; X (XO, Turner); XXX (Trisomy X, Triple X); XXXX (Tetrasomy X); XXXXX (Pentasomy X)

 

Last Updated: 8 Aug 2017

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