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Triple X Syndrome
Triple X Syndrome
Published: 2012/01/30
Channel: trfthatsme3
Trisomy X Awareness
Trisomy X Awareness
Published: 2015/08/03
Channel: Trisomy X Girl
Triple X Syndrome Introduction
Triple X Syndrome Introduction
Published: 2014/10/29
Channel: killjoycola
Klinfelter, Turner, and Triple X syndrome
Klinfelter, Turner, and Triple X syndrome
Published: 2015/04/28
Channel: Elana Altman
Triple X Syndrome Speech
Triple X Syndrome Speech
Published: 2015/10/08
Channel: Grace Dibble
TRIPLE X SYNDROME
TRIPLE X SYNDROME
Published: 2016/11/15
Channel: rodrmoni118
The XXX syndrome
The XXX syndrome
Published: 2015/04/30
Channel: SanCortes1
The myth of the "supermale" and the extra Y chromosome
The myth of the "supermale" and the extra Y chromosome
Published: 2015/02/25
Channel: Vox
How Sex Genes Are More Complicated Than You Thought
How Sex Genes Are More Complicated Than You Thought
Published: 2015/07/26
Channel: Seeker
What is Trisomy X? 47 XXX I have this condition
What is Trisomy X? 47 XXX I have this condition
Published: 2014/07/28
Channel: Beautifully Unique
Triple X syndrome
Triple X syndrome
Published: 2014/07/15
Channel: Audiopedia
Fragile X Syndrome
Fragile X Syndrome
Published: 2014/05/17
Channel: Ismael Ahmed
My Triple X Syndrome Journey
My Triple X Syndrome Journey
Published: 2016/12/05
Channel: Emily Herrity
Caitlyn McElligott Increases Awareness of Trisomy X Conditions in Babies
Caitlyn McElligott Increases Awareness of Trisomy X Conditions in Babies
Published: 2016/11/08
Channel: Girl Scouts of the USA
OOPSIES! - (Triple X Syndrome)
OOPSIES! - (Triple X Syndrome)
Published: 2016/04/26
Channel: Jackie Huang
Biology Project: Triple X Syndrome
Biology Project: Triple X Syndrome
Published: 2011/03/02
Channel: JesseNoelleTV
Trisomy X
Trisomy X
Published: 2016/06/01
Channel: Alexys Cebula
Triple X Syndrome
Triple X Syndrome
Published: 2013/10/09
Channel: Leah Robbie
Caitlyn McElligot Raises Awareness of Underdiagnosed Genetic Condition
Caitlyn McElligot Raises Awareness of Underdiagnosed Genetic Condition
Published: 2016/12/21
Channel: Girl Scouts of the USA
Triple X syndrome (Medical Condition)
Triple X syndrome (Medical Condition)
Published: 2015/04/22
Channel: Medical Condition Information
trisomy x movie
trisomy x movie
Published: 2013/06/11
Channel: love bio
Triple X Syndrome By: Gracie Leonis Biology 1 Period 1 Colvin
Triple X Syndrome By: Gracie Leonis Biology 1 Period 1 Colvin
Published: 2014/10/08
Channel: Grace Leonis
Triple X sydrome and Hypotonia :) anyone out there
Triple X sydrome and Hypotonia :) anyone out there
Published: 2013/02/19
Channel: wolfgirl167Jess
Triple X syndrome- disease project
Triple X syndrome- disease project
Published: 2015/10/07
Channel: Hannah Martinez
Super Female
Super Female
Published: 2015/04/12
Channel: Micah Graciani
Health and Development in Trisomy X Syndrome
Health and Development in Trisomy X Syndrome
Published: 2016/11/09
Channel: AXYS Official
bert & daniela: triple x syndrome
bert & daniela: triple x syndrome
Published: 2011/01/06
Channel: bert junior
Triple X Syndrome
Triple X Syndrome
Published: 2017/04/25
Channel: Amin Roshanzamir
Trisomy X
Trisomy X
Published: 2012/01/26
Channel: Connie Sebesta
Triple X Syndrome
Triple X Syndrome
Published: 2012/01/18
Channel: RyanMayta
Triple X syndrome
Triple X syndrome
Published: 2014/05/24
Channel: dxc6639
Nicole Tartaglia, MD and Susan Howell - Trisomy X Syndrome: An Overview
Nicole Tartaglia, MD and Susan Howell - Trisomy X Syndrome: An Overview
Published: 2017/03/15
Channel: AXYS Official
Tiple X Syndrome LS
Tiple X Syndrome LS
Published: 2013/02/01
Channel: Josue Escalante
Padded Cell - Triple X Syndrome
Padded Cell - Triple X Syndrome
Published: 2009/07/17
Channel: Luca Tancini
Drs. Marit Bierman -  The Impact of Triple X Syndrome on Psychological Functioning
Drs. Marit Bierman - The Impact of Triple X Syndrome on Psychological Functioning
Published: 2017/03/30
Channel: AXYS Official
Our Journey with Disabilities
Our Journey with Disabilities
Published: 2013/07/21
Channel: CJ Wardog
IN CONTROL Study (Trisomy X)
IN CONTROL Study (Trisomy X)
Published: 2016/11/23
Channel: TASTER project
triple x syndrome disease
triple x syndrome disease
Published: 2011/01/18
Channel: Tk Countin bandz
Triple X Syndrome - 2017 honor bio
Triple X Syndrome - 2017 honor bio
Published: 2017/04/10
Channel: Amy Ancheta
TRIPLE X SYNDROME PROJECT VIDEO
TRIPLE X SYNDROME PROJECT VIDEO
Published: 2015/05/18
Channel: Peter Kamats
Triple X Syndrome
Triple X Syndrome
Published: 2013/02/01
Channel: Josue Escalante
Trisomy X Syndrome
Trisomy X Syndrome
Published: 2014/10/08
Channel: Abnova
What Is Triple X Syndrome?
What Is Triple X Syndrome?
Published: 2017/06/08
Channel: FindaTopDoc Media
Triple X Syndrome
Triple X Syndrome
Published: 2017/04/17
Channel: Divhleen Ruprai
Trisomy X Syndrome PSA
Trisomy X Syndrome PSA
Published: 2013/11/03
Channel: Zevlingo
Superfemale Syndrome PSA Video
Superfemale Syndrome PSA Video
Published: 2013/11/04
Channel: Nicki R
Trisomy X PSA
Trisomy X PSA
Published: 2014/02/22
Channel: Nick Johnson
Triple X Syndrome Bio.Pro.
Triple X Syndrome Bio.Pro.
Published: 2012/01/18
Channel: Rainel E. Villanueva
My year 10 Science video about Triple X Syndrome
My year 10 Science video about Triple X Syndrome
Published: 2012/03/02
Channel: hectorvillePS3
Triple X Syndrome - Global Biology Spring 2013
Triple X Syndrome - Global Biology Spring 2013
Published: 2013/04/18
Channel: Thomas Brown
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WIKIPEDIA ARTICLE

From Wikipedia, the free encyclopedia
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Triple X syndrome
Synonyms Triplo-X syndrome, trisomy X, XXX syndrome, 47 XXX syndrome[1]
XXXSyndromeB.png
Increased distance between the eyes in 9 year old girl with trisomy X[2]
Specialty Medical genetics
Symptoms Taller than average[1]
Complications Learning difficulties, decreased muscle tone, seizures, kidney problems[1]
Causes Random event[1]
Diagnostic method Chromosomal analysis[3]
Treatment Speech therapy, physical therapy, counseling[3]
Frequency 1 per 1,000 female births[2]

Triple X syndrome, also known as trisomy X and 47 XXX, is characterized by the presence of an extra X chromosome in each cell of a female.[1] Those affected are often taller than average. Usually there are no other physical differences and normal fertility. Occasionally there are learning difficulties, decreased muscle tone, seizures, or kidney problems.[1]

Triple X is due to a random event.[1] Triple X can result either during the division of the mother's reproductive cells or during division of cells during early development.[2] It is not typically inherited from one generation to the next. A form where only a percentage of the body cells contain XXX can also occur.[1] Diagnosis is by chromosomal analysis.[3]

Treatment may include speech therapy, physical therapy, and counseling.[3] It occurs in about one in every 1,000 female births.[2] It is estimated that 90% of those affected are not diagnosed as they either have no or only few symptoms.[2] It was first identified in 1959.[4]

Signs and symptoms

Because the vast majority of triple X females are never diagnosed, it may be very difficult to make generalizations about the effects of this syndrome. The samples that were studied were small and may be nonrepresentative. Because of the lyonization, inactivation, and formation of Barr bodies in all female cells, only one X chromosome is active at any time. Thus, triple X syndrome most often has only mild effects or has no effects. The symptoms vary from person to person, with some women being more affected than others.

Physical

Symptoms may include tall stature, vertical skin folds that may cover the inner corners of the eyes (epicanthal folds), poor muscle tone, and a curve in the 5th finger towards the 4th.[2] There may also be a small head (microcephaly).[5] There are seldom any observable physical anomalies in triple X females, other than being taller than average.

Poor coordination may be present.[6] Those affected appear to have higher rates of scoliosis.[6]

Psychological

Females with triple X syndrome often have delayed language development.[6] On average those affected have IQs that are 20 points lower.[6] Poor self-esteem, anxiety, and depression are also common.[2][6]

Cause

Problems in male meiosis resulting in a male cell with 2 X-chromosomes.
Problems in female meiosis resulting in a female cell with 3 X-chromosomes.

Triple X syndrome is not inherited, but usually, occurs as an event during the formation of reproductive cells (ovum and sperm). An error in cell division called nondisjunction can result in reproductive cells with additional chromosomes. For example, an oocyte or sperm cell may gain an extra copy of the X chromosome as a result of the non-disjunction. If one of these cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of her cells. In some cases, trisomy X occurs during cell division in early embryonic development.

Some females with triple X syndrome have an extra X chromosome in only some of their cells. These cases are called 46,XX/47,XXX mosaics.

Diagnosis

The vast majority of triple X women are never diagnosed, unless they undergo tests for other medical reasons later in life. Triple X can be diagnosed by a blood test which is able to look at a person’s chromosomes (karyotype). Abnormalities on the electroencephalography may be present.[6]

Triple X syndrome can be diagnosed prenatally through amniocentesis or chorionic villus sampling. In Denmark, between 1970 and 1984, 76% of the prenatally diagnosed fetuses with triple-X were aborted. Between 1985-1987, this figure dropped to 56%. With improved information, the number of abortions diminished. In the Netherlands, between 1991 and 2000, 33% (18/54) of the couples that were confronted with a prenatal diagnosis of 47, XXX elected to abort. If balanced information is provided to prospective parents, prenatally, the incidence of voluntary termination (abortion) is reduced.[7]

Treatment

A stable home environment can improve some of the symptoms.[6]

Epidemiology

Triple X syndrome occurs in around 1 in 1,000 girls. On average, five to ten girls with triple X syndrome are born in the United States each day.[8]

History

The first published report of a woman with a 47,XXX karyotype was by Patricia A. Jacobs, et al. at Western General Hospital in Edinburgh, Scotland, in 1959. It was found in a 35‑year-old, 5 ft. 9 in. (176 cm) tall, 128 lb. (58.2 kg) woman who had premature ovarian failure at age 19; her mother was age 41 and her father was 40 at the time of her conception.[9] Jacobs, et al. called the 47,XXX woman a "superfemale", a term which was immediately criticized, did not gain acceptance, and was based on the incorrect assumption that the sex-determination system in mammals was the same as in the fruit fly Drosophila.[10] British pathologist and geneticist Bernard Lennox, the principal consultant on medical terms for the Oxford English Dictionary, suggested the term "XXX syndrome".[11]

References

  1. ^ a b c d e f g h "triple X syndrome". GHR. June 2014. Retrieved 26 September 2016. 
  2. ^ a b c d e f g h Tartaglia, NR; Howell, S; Sutherland, A; Wilson, R; Wilson, L (11 May 2010). "A review of trisomy X (47,XXX).". Orphanet journal of rare diseases. 5: 8. PMC 2883963Freely accessible. PMID 20459843. doi:10.1186/1750-1172-5-8. 
  3. ^ a b c d "47 XXX syndrome". GARD. 16 March 2016. Retrieved 26 September 2016. 
  4. ^ Wright, David (2011). Downs: The history of a disability. OUP Oxford. p. 159. ISBN 9780191619786. 
  5. ^ http://www.mayoclinic.com/health/triple-x-syndrome/DS01090/DSECTION=symptoms
  6. ^ a b c d e f g Otter, M; Schrander-Stumpel, CT; Curfs, LM (March 2010). "Triple X syndrome: a review of the literature.". European Journal of Human Genetics. 18 (3): 265–71. PMC 2987225Freely accessible. PMID 19568271. doi:10.1038/ejhg.2009.109. 
  7. ^ written by Connie T.R.M. Schrander-Stumpel, MD, Ph.D., Professor of Clinical Genetics, Academic Hospital Maastricht, Netherlands. http://www.triple-x-syndroom.nl/document31/patient+care+article+triplexsyndrome+or+trisomy+x
  8. ^ National Library of Medicine (2007). "Genetics Home Reference: Triple X syndrome". Retrieved 2007-03-22. 
  9. ^ Jacobs, Patricia A.; Baikie, Albert G.; Court Brown, W. Michael; MacGregor, Thomas N.; Maclean, Neil; Harnden, David G. (September 26, 1959). "Evidence for the existence of the human 'super female'". Lancet. 274 (7100): 423–425. PMID 14406377. doi:10.1016/S0140-6736(59)90415-5. 
  10. ^ Stern, Curt (December 12, 1959). "Use of the term 'superfemale'". Lancet. 274 (7111): 1088. doi:10.1016/S0140-6736(59)91557-0. 
    Jacobs, Patricia A.; Baikie, Albert G.; Court Brown, W. Michael; Harnden, David G.; MacGregor, Thomas N.; Maclean, Neil (December 19, 1959). "Use of the term 'superfemale'". Lancet. 274 (7112): 1145. doi:10.1016/S0140-6736(59)90132-1. 
    Jacobs, Patricia A. (March 3–5, 2006). "The discovery and history of Trisomy X and XYY syndrome". National Conference on Trisomy X and XYY, UC Davis M.I.N.D. Institute, Sacramento, California. DVD 02. Pine, Colorado: KS&A. 
    Ferguson-Smith, Malcolm A. (December 2009). "It is 50 years since the discovery of the male determining role of the Y chromosome!". Sexual Development. 3 (5): 233–236. PMID 19844083. doi:10.1159/000252792. 
    Ferguson-Smith, Malcolm A. (September 2011). "Putting medical genetics into practice". Annual Review of Genomics and Human Genetics. 12: 1–23. PMID 21639797. doi:10.1146/annurev-genom-082410-101451. 
  11. ^ Lennox, Bernard (January 2, 1960). "Use of the term 'superfemale'". Lancet. 275 (7114): 55. doi:10.1016/S0140-6736(60)92744-6. 
    Fraser, Jean H.; Campbell, John; MacGillivray, Ronald Charles; Boyd, Elizabeth; Lennox, Bernard (September 17, 1960). "The XXX syndrome: frequency among mental defectives and fertility". Lancet. 276 (7151): 626–627. PMID 13701513. doi:10.1016/S0140-6736(60)91696-2. 
    Anderson, John B.; Crofton, John (August 16, 1997). "Obituary: Bernard Lennox". BMJ. 315 (7105): 432. doi:10.1136/bmj.315.7105.432. 

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