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Disease Profile

Tetrasomy X

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q97.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

48 XXXX; 48 XXXX syndrome; Tetra X;

Categories

Chromosome Disorders; Congenital and Genetic Diseases; Endocrine Diseases;

Summary

Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Global developmental delay
0001263
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Muscular hypotonia
Low or weak muscle tone
0001252
Radioulnar synostosis
Fused forearm bones
0002974
Specific learning disability
0001328
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Abnormality of immune system physiology
0010978
Brachydactyly
Short fingers or toes
0001156
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Hip dysplasia
0001385
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure

[ more ]

0008209

Cause

Tetrasomy X is usually caused by a random error in the formation of an egg cell (before pregnancy). In some cases, it may be due to inheriting three X chromosomes from the mother and one X chromosome from the father. In other cases, it may be due to inheriting all four X chromosomes from the mother. During the normal formation of egg cells, each egg cell contains one X chromosome to pass on to offspring. However, errors in cell division can cause an egg cell to have three or four X chromosomes, instead of one. If an egg cell with the extra X chromosomes is fertilized by a sperm cell with one X chromosome, the resulting embryo will have these extra chromosomes. Rarely, tetrasomy X may be caused by an error in cell division that occurs after an egg is fertilized, or by the presence of extra X chromosomes in some of the mother's cells.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • Genetics Home Reference (GHR) contains information on Tetrasomy X. This website is maintained by the National Library of Medicine.
    • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about tetrasomy X.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Tetrasomy X. Click on the link to view a sample search on this topic.

        References

        1. Tetrasomy X. Unique. 2005; https://www.rarechromo.org/information/Chromosome_X/Tetrasomy_X%20FTNW.pdf.
        2. N Ayari, A Berge, Susan Howell, and Nicole Tartaglia. Tetrasomy X. Orphanet. January, 2010; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=390.

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