Trisomy X: Difference between revisions
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{{Infobox medical condition | |||
[[File:Trisomy_X_facial_phenotypes_(cropped).png| | | name = Trisomy X | ||
| image = [[File:Trisomy_X_facial_phenotypes_(cropped).png|alt=Facial phenotypes of individuals with Trisomy X]] | |||
| caption = 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]] | |||
| onset = [[Prenatal]] | |||
| duration = Lifelong | |||
| types = | |||
| causes = [[Nondisjunction]] during [[meiosis]] | |||
| risks = Advanced maternal age | |||
| diagnosis = [[Karyotype]] analysis | |||
| differential = [[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 = | |||
}} | |||
[[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. | '''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 == | == 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. | 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]] | [[File:45,X0-47,XXX_mosaic.png|thumb|Karyotype showing mosaicism with 45,X0 and 47,XXX]] | ||
== Clinical Features == | == 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. | 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]] | [[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 == | == 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. | 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 == | == 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. | 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]] | [[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 == | ||
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. | 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 == | == 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. | 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]] | ||
* [[Chromosomal disorder]] | * [[Chromosomal disorder]] | ||
== References == | == References == | ||
* 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. | * 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. | * 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 | |
|---|---|
.png)
| |
| 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 | |
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.
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.
_distribution_for_females_with_47,XXX_compared_to_controls.png)
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.
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.
