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Trisomy X

Table of Contents

Trisomy X

47,XXX; 47,XXX syndrome; Triple X Syndrome; Triple X syndrome; Triple-X female; XXX syndrome; Triple-X chromosome syndrome; Triplo X syndrome

Trisomy X syndrome, also called triple X syndrome or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Most females with triple X syndrome have normal sexual development and are able to conceive children.

Triple X syndrome karyotype

Image by Genetics Home Reference, U.S. National Library of Medicine

Summary

XXXSyndromeA

Image by Nicole R Tartaglia,corresponding author1,2 Susan Howell,1,2 Ashley Sutherland,1 Rebecca Wilson,2 and Lennie Wilson3/Wikimedia

XXXSyndromeA

Epicanthal folds and hypertelorism in 2 year old girl with trisomy X

Image by Nicole R Tartaglia,corresponding author1,2 Susan Howell,1,2 Ashley Sutherland,1 Rebecca Wilson,2 and Lennie Wilson3/Wikimedia

What Is 47 XXX Syndrome?

47 XXX syndrome, also called trisomy X or triple X syndrome, 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. 47 XXX syndrome 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 specific symptoms, if present. Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

45,X0-47,XXX mosaic

A nine-year-old girl with a mosaic Turner syndrome and trisomy X karyotype

Image by Paul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage, Neerja Gupta, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Teresa Aravena, Sheela Nampoothiri, Dhanya Yesodharan, Katta M Girisha, Siddaramappa Jagdish Patil, Saumya Shekhar Jamuar, Jasmine Chew-Yin Goh, Agustini Utari, Nydia Sihombing, Rupesh Mishra, Neer Shoba Chitrakar, Brenda C Iriele, Ezana Lulseged, Andre Megarbane, Annette Uwineza, Elizabeth Eberechi Oyenusi, Oluwarotimi Bolaji Olopade, Olufemi Adetola Fasanmade, Milagros M Duenas-Roque, Meow-Keong Thong, Joanna Y L Tung, Gary T K Mok, Nicole Fleischer, Godfrey M Rwegerera, María Beatriz de Herreros, Johnathan Watts, Karen Fieggen, Victoria Huckstadt, Angélica Moresco, María Gabriela Obregon, Dalia Farouk Hussen, Neveen A Ashaat, Engy A Ashaat, Brian H Y Chung, Eben Badoe, Sultana M H Faradz, Mona O El Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem Nsikak Ekure, Shubha R Phadke, Antonio Richieri-Costa, Maximilian Muenke/Wikimedia

45,X0-47,XXX mosaic

Paul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage, Neerja Gupta, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Teresa Aravena, Sheela Nampoothiri, Dhanya Yesodharan, Katta M Girisha, Siddaramappa Jagdish Patil, Saumya Shekhar Jamuar, Jasmine Chew-Yin Goh, Agustini Utari, Nydia Sihombing, Rupesh Mishra, Neer Shoba Chitrakar, Brenda C Iriele, Ezana Lulseged, Andre Megarbane, Annette Uwineza, Elizabeth Eberechi Oyenusi, Oluwarotimi Bolaji Olopade, Olufemi Adetola Fasanmade, Milagros M Duenas-Roque, Meow-Keong Thong, Joanna Y L Tung, Gary T K Mok, Nicole Fleischer, Godfrey M Rwegerera, María Beatriz de Herreros, Johnathan Watts, Karen Fieggen, Victoria Huckstadt, Angélica Moresco, María Gabriela Obregon, Dalia Farouk Hussen, Neveen A Ashaat, Engy A Ashaat, Brian H Y Chung, Eben Badoe, Sultana M H Faradz, Mona O El Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem Nsikak Ekure, Shubha R Phadke, Antonio Richieri-Costa, Maximilian Muenke/Wikimedia

Symptoms

Hypertelorism in 9 year old girl with trisomy X

Image by Nicole R Tartaglia,corresponding author1,2 Susan Howell,1,2 Ashley Sutherland,1 Rebecca Wilson,2 and Lennie Wilson3

Hypertelorism in 9 year old girl with trisomy X

Hypertelorism in 9 year old girl with trisomy X

Image by Nicole R Tartaglia,corresponding author1,2 Susan Howell,1,2 Ashley Sutherland,1 Rebecca Wilson,2 and Lennie Wilson3

What Are the Signs and Symptoms of 47 XXX Syndrome?

Many women with 47 XXX syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced. Females with 47 XXX syndrome may be taller than average, but the condition usually does not cause unusual physical features. Minor physical findings can be present in some individuals and may include epicanthal folds, hypertelorism (widely spaced eyes), upslanting palpebral fissures, clinodactyly, overlapping digits (fingers or toes), pes planus (flat foot), and pectus excavatum. The condition is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. Most females with the condition have normal sexual development and are able to conceive children.

Source: Genetic and Rare Diseases (GARD) Information Center

Inheritance

Triple X syndrome karyotype

Image by Genetics Home Reference, U.S. National Library of Medicine

Triple X syndrome karyotype

Chromosome diagram showing presence of three X chromosomes in triple X syndrome.

Image by Genetics Home Reference, U.S. National Library of Medicine

How Is 47 XXX Syndrome Inherited?

Transmission of an abnormal number of X chromosomes from women with 47 XXX syndrome is rare, although it has been reported. Some reports suggest a [3] Each individual with 47 XXX syndrome who is interested in learning about their own risks to have a child with a chromosome abnormality or other genetic abnormality should speak with their healthcare provider or a genetics professional.

Source: Genetic and Rare Diseases (GARD) Information Center

Diagnosis

2-Karyotype-showing-46-XX-and-46-XXX

Image by Kishore Behera, Jasmina Begum, Debasish Hota/Wikimedia

2-Karyotype-showing-46-XX-and-46-XXX

The karyotype (chromosome complement) for trisomy X, demonstrating three copies of the X chromosome.

Image by Kishore Behera, Jasmina Begum, Debasish Hota/Wikimedia

How Is 47 XXX Syndrome Diagnosed?

47 XXX syndrome may first be suspected based on the presence of certain developmental, behavioral or learning disabilities in an individual. The diagnosis can be confirmed with chromosomal analysis (karyotyping), which can be performed on a blood sample. This test would reveal the presence of an extra X chromosome in body cells. 47 XXX syndrome may also be identified before birth (prenatally), based on chromosomal analysis performed on a sample taken during an amniocentesis or by a chorionic villus sampling (CVS) procedure. However, in these cases, confirmation testing with a test called FISH, which gives more details of the chromosomes, is recommended in order to evaluate the fetus for mosaicism (when only some of the cells have the extra X chromosome).

Source: Genetic and Rare Diseases (GARD) Information Center

Treatment

What are Intellectual and Developmental Disabilities (IDDs)?

Image by Mass Communication Specialist 3rd Class Mark R. Alvarez

What are Intellectual and Developmental Disabilities (IDDs)?

A Singapore navy sailor interacts with an intellectually disabled adult at a Movement for the Intellectually Disabled of Singapore (MINDS) training and development center.

Image by Mass Communication Specialist 3rd Class Mark R. Alvarez

How Might 47 XXX Syndrome Be Treated?

There is no cure for 47 XXX syndrome, and there is no way to remove the extra X chromosome that is present in an affected individual's cells. Management of the condition varies and depends on several factors including the age at diagnosis, the specific symptoms that are present, and the overall severity of the disorder in the affected individual. Recommendations include:

Early intervention services for infants and children that are diagnosed with the condition. Evidence suggests that children with 47 XXX syndrome are very responsive to early intervention services and treatment. These services may include speech, occupational, physical or developmental therapy, starting in the early months of life or as soon as needs are identified.
Periodic screenings throughout childhood: Specific recommendations include developmental assessment by 4 months of age to evaluate muscle tone and strength; language and speech assessment by 12 months of age; pre-reading assessment during preschool years; and an assessment of additional learning disabilities as well as social and emotional problems.
Educational assistance. Receiving educational help to learn techniques and strategies to be successful in school and daily life.
Supportive environment and counseling. Girls with triple X syndrome may be more prone to anxiety, as well as behavior and emotional problems. It is important to have a supportive environment and psychological counseling which may help teaching the family how to demonstrate love and encouragement, and discourage behaviors that might negatively impact learning and social functioning.
Assistance and support in daily functioning. If there is developmental delays, this assistance and support may include help with activities of daily living, social opportunities and employment.

It is also recommended that infants and children with 47 XXX syndrome receive kidney and heart evaluations to detect possible abnormalities. Adolescent and adult women who have late periods, menstrual abnormalities, or fertility issues should be evaluated for primary ovarian failure (POF). Additional treatment for this disorder depends on the specific signs and symptoms present in the affected individual.

Source: Genetic and Rare Diseases (GARD) Information Center

Related HealthJournals

Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Over 2000 tests are available. Genetic testing may be done for many reasons, from newborn baby screening to diagnosing certain diseases. Read about why you might consider testing.

Congenital Heart Defects

Congenital heart defects (CHD) are problems with the structure of the heart, and are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. Learn more about the symptoms, causes, treatments, and how to manage congenital heart defects.

Chromosomes

Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell. Humans have 22 pairs of numbered chromosomes (autosomes) and one pair of sex chromosomes (XX or XY), for a total of 46. Each pair contains two chromosomes, one coming from each parent. Learn more.

Differences of Sex Development

Differences of sex development (DSD) represent a spectrum of congenital conditions in which the chromosomal, gonadal or phenotypic (anatomic) sex is atypical, meaning it doesn't fit the typical definitions of female or male. Some DSDs are more common than others. Learn about some of the more known DSDs.

Learning Disabilities

Learning disabilities affect how people understand, remember, and respond to information. Learning disabilities occur in very young children, yet they are usually not noticed until the child reaches school age. Learning disabilities can be lifelong conditions. Find out how to identify and cope with a learning disability.

Speech and Communication Disorders

Speech and communication disorders affect our ability to communicate. From saying sounds incorrectly to being unable to understand others talking. Learn more about speech and communication disorders.

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Trisomy X

Trisomy X syndrome, also called triple X syndrome or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Most females with triple X syndrome have normal sexual development and are able to conceive children.

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