49, XXXYY syndrome

Title

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Other Names:

XXXYY syndrome

Categories:

Congenital and Genetic Diseases

This disease is grouped under:

Numeric sex chromosome variations

Summary Summary

49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.^[1]^[2]

Last updated: 5/17/2016

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal facial shape	Unusual facial appearance	0001999
Abnormal plantar dermatoglyphics	Abnormal prints on feet	0010506
Abnormality of the cerebral white matter		0002500
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Autistic behavior		0000729
Bilateral talipes equinovarus	Club foot on both sides	0001776
Decreased serum testosterone level	Decreased serum testosterone levels Low serum testosterone level Low serum testosterone levels [ more ]	0040171
Decreased testicular size	Small testes Small testis [ more ]	0008734
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Eunuchoid habitus		0003782
Finger clinodactyly		0040019
Gynecomastia	Enlarged male breast	0000771
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Increased circulating gonadotropin level	Elevated gonadotropins Elevated serum gonadotropins Gonadotropin excess [ more ]	0000837
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Low frustration tolerance		0000744
Low-set, posteriorly rotated ears		0000368
Male hypogonadism	Decreased function of male gonad	0000026
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Micropenis	Short penis Small penis [ more ]	0000054
Moderate global developmental delay		0011343
Narrow chest	Low chest circumference Narrow shoulders [ more ]	0000774
Primary gonadal insufficiency		0008193
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Recurrent upper respiratory tract infections	Recurrent colds	0002788
Ventriculomegaly		0002119
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431

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Last updated: 1/1/2021

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Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

Orphanet lists international laboratories offering diagnostic testing for this condition.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations 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

Association for X and Y Chromosome Variations (AXYS)
P.O. Box 861
Mendenhall, PA 19357
Toll-free: 1-888-999-9428
E-mail: info@genetic.org
Website: https://genetic.org/
Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/

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Learn More 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

The Children's Hospital Colorado offers an information page on 49, XXXYY syndrome. Please click on the link to access this resource.

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 49, XXXYY syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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References References

Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. 1995 Oct; 96(4 pt 1):672-682. https://www.ncbi.nlm.nih.gov/pubmed/7567329.
Cowie VA, Singh KR, Wheater R. 49, XXXYY chromosome anomaly in a mentally retarded man. Br J Psychiatry. 1986 Feb; 148:210-212. https://www.ncbi.nlm.nih.gov/pubmed/3697588.

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