Trisomy X: Difference between revisions

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'''Trisomy X''', also known as '''Triple X syndrome''' or '''47,XXX''', is a [[genetic disorder]] that affects females. It is characterized by the presence of an extra [[X chromosome]] in each of a female's cells.  
{{SI}}
 
{{Infobox medical condition
==Causes==
| name                    = Trisomy X
Trisomy X occurs as a result of a process called [[nondisjunction]]. During the formation of the [[egg cell]] or [[sperm cell]], the X chromosomes fail to separate properly, leading to an egg or sperm cell with an extra X chromosome. When this cell is fertilized, the resulting individual has three X chromosomes instead of the usual two.
| image                  = [[File:Trisomy_X_facial_phenotypes_(cropped).png|alt=Facial phenotypes of individuals with Trisomy X]]
 
| caption                = Facial phenotypes of individuals with Trisomy X
==Symptoms==
| synonyms                = Triple X syndrome, 47,XXX
The symptoms of Trisomy X can vary widely. Some females with the condition have no noticeable symptoms, while others may experience [[learning disabilities]], [[speech and language delays]], and [[behavioral problems]]. Physical features can include tall stature, [[epicanthal folds]], and [[hypotonia]] (low muscle tone).
| pronounce              =
 
| specialty              = [[Medical genetics]]
==Diagnosis==
| symptoms                = [[Tall stature]], [[learning disabilities]], [[developmental delay]], [[hypotonia]], [[epicanthic folds]]
Trisomy X is typically diagnosed through a [[genetic test]] called a [[karyotype]]. This test involves taking a sample of blood or tissue and examining the chromosomes under a microscope. If an extra X chromosome is present, a diagnosis of Trisomy X can be made.
| onset                  = [[Prenatal]]
 
| duration                = Lifelong
==Treatment==
| types                  =
There is no cure for Trisomy X, but treatments are available to manage the symptoms. These may include [[speech therapy]], [[occupational therapy]], and [[behavioral therapy]]. Medications may also be used to manage symptoms such as [[anxiety]] and [[attention deficit hyperactivity disorder]] (ADHD).
| causes                  = [[Nondisjunction]] during [[meiosis]]
 
| risks                  = Advanced maternal age
==Prognosis==
| diagnosis              = [[Karyotype]] analysis
The prognosis for individuals with Trisomy X is generally good. Most are able to live healthy, productive lives with the appropriate supports and interventions. However, they may be at increased risk for certain health problems, such as [[premature ovarian failure]] and [[osteoporosis]].
| differential            = [[Turner syndrome]], [[Klinefelter syndrome]], [[Down syndrome]]
 
| prevention              = None
==See also==
| treatment              = [[Supportive care]], [[speech therapy]], [[occupational therapy]]
| medication              =
| prognosis              = Generally good with support
| frequency              = 1 in 1,000 female births
| deaths                  =
}}
[[File:KS-TX-YY_age_at_diagnosis.png|thumb|Age at diagnosis for Klinefelter syndrome, Trisomy X, and XYY syndrome]]
'''Trisomy X''', also known as '''47,XXX''', is a chromosomal disorder that affects females. It is characterized by the presence of an extra X chromosome, resulting in a total of three X chromosomes instead of the usual two. This condition occurs in approximately 1 in 1,000 female births.
== Genetics ==
Trisomy X is caused by nondisjunction during meiosis, which leads to an extra X chromosome in each cell. The karyotype for Trisomy X is 47,XXX. In some cases, mosaicism can occur, where some cells have the typical 46,XX karyotype and others have 47,XXX.  
[[File:45,X0-47,XXX_mosaic.png|thumb|Karyotype showing mosaicism with 45,X0 and 47,XXX]]
== Clinical Features ==
Many females with Trisomy X are asymptomatic and may never be diagnosed. However, some may exhibit mild symptoms such as tall stature, learning disabilities, and delayed speech and language development. Behavioral and emotional difficulties can also occur.
[[File:Estimated_Full-Scale_IQ_(FSIQ)_distribution_for_females_with_47,XXX_compared_to_controls.png|thumb|Estimated Full-Scale IQ distribution for females with 47,XXX compared to controls]]
== Diagnosis ==
Trisomy X is often diagnosed through a karyotype analysis, which can be performed prenatally or postnatally. Prenatal diagnosis is possible through procedures such as amniocentesis or chorionic villus sampling.
== Epidemiology ==
The prevalence of Trisomy X is estimated to be around 1 in 1,000 female births. However, due to the often mild or asymptomatic nature of the condition, many cases remain undiagnosed.
[[File:SCA_expected_and_observed_prevalence_in_Denmark_-_cropped_to_TS_and_TX.png|thumb|Expected and observed prevalence of sex chromosome aneuploidies in Denmark, including Trisomy X]]
== Management ==
Management of Trisomy X is typically supportive and symptomatic. Educational support and speech therapy may be beneficial for those with learning disabilities or speech delays. Regular monitoring and follow-up with healthcare providers are recommended.
== Prognosis ==
The prognosis for individuals with Trisomy X is generally good, with most leading normal lives. Lifespan is not significantly affected, and many women with Trisomy X have normal fertility.
== See Also ==
* [[Klinefelter syndrome]]
* [[Klinefelter syndrome]]
* [[Turner syndrome]]
* [[Turner syndrome]]
* [[XYY syndrome]]
* [[Chromosomal disorder]]
 
== References ==
{{stub}}
* Tartaglia, N. R., Howell, S., Sutherland, A., Wilson, R., & Wilson, L. (2010). A review of trisomy X (47,XXX). ''Orphanet Journal of Rare Diseases'', 5(1), 8.
[[Category:Syndromes]]
* Leggett, V., Jacobs, P., Nation, K., Scerif, G., & Bishop, D. V. M. (2010). Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: A systematic review. ''Developmental Medicine & Child Neurology'', 52(2), 119-129.
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Chromosomal abnormalities]]
[[Category:Chromosomal abnormalities]]

Latest revision as of 07:13, 6 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Trisomy X
Facial phenotypes of individuals with Trisomy X
Synonyms Triple X syndrome, 47,XXX
Pronounce
Specialty Medical genetics
Symptoms Tall stature, learning disabilities, developmental delay, hypotonia, epicanthic folds
Complications N/A
Onset Prenatal
Duration Lifelong
Types
Causes Nondisjunction during meiosis
Risks Advanced maternal age
Diagnosis Karyotype analysis
Differential diagnosis Turner syndrome, Klinefelter syndrome, Down syndrome
Prevention None
Treatment Supportive care, speech therapy, occupational therapy
Medication
Prognosis Generally good with support
Frequency 1 in 1,000 female births
Deaths


Age at diagnosis for Klinefelter syndrome, Trisomy X, and XYY syndrome

Trisomy X, also known as 47,XXX, is a chromosomal disorder that affects females. It is characterized by the presence of an extra X chromosome, resulting in a total of three X chromosomes instead of the usual two. This condition occurs in approximately 1 in 1,000 female births.

Genetics[edit]

Trisomy X is caused by nondisjunction during meiosis, which leads to an extra X chromosome in each cell. The karyotype for Trisomy X is 47,XXX. In some cases, mosaicism can occur, where some cells have the typical 46,XX karyotype and others have 47,XXX.

Karyotype showing mosaicism with 45,X0 and 47,XXX

Clinical Features[edit]

Many females with Trisomy X are asymptomatic and may never be diagnosed. However, some may exhibit mild symptoms such as tall stature, learning disabilities, and delayed speech and language development. Behavioral and emotional difficulties can also occur.

Estimated Full-Scale IQ distribution for females with 47,XXX compared to controls

Diagnosis[edit]

Trisomy X is often diagnosed through a karyotype analysis, which can be performed prenatally or postnatally. Prenatal diagnosis is possible through procedures such as amniocentesis or chorionic villus sampling.

Epidemiology[edit]

The prevalence of Trisomy X is estimated to be around 1 in 1,000 female births. However, due to the often mild or asymptomatic nature of the condition, many cases remain undiagnosed.

Expected and observed prevalence of sex chromosome aneuploidies in Denmark, including Trisomy X

Management[edit]

Management of Trisomy X is typically supportive and symptomatic. Educational support and speech therapy may be beneficial for those with learning disabilities or speech delays. Regular monitoring and follow-up with healthcare providers are recommended.

Prognosis[edit]

The prognosis for individuals with Trisomy X is generally good, with most leading normal lives. Lifespan is not significantly affected, and many women with Trisomy X have normal fertility.

See Also[edit]

References[edit]

  • Tartaglia, N. R., Howell, S., Sutherland, A., Wilson, R., & Wilson, L. (2010). A review of trisomy X (47,XXX). Orphanet Journal of Rare Diseases, 5(1), 8.
  • Leggett, V., Jacobs, P., Nation, K., Scerif, G., & Bishop, D. V. M. (2010). Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: A systematic review. Developmental Medicine & Child Neurology, 52(2), 119-129.
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