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47, XYY syndrome


Información en español Title




Other Names:
YY syndrome; XYY syndrome; XYY Karyotype; YY syndrome; XYY syndrome; XYY Karyotype; Jacobs syndrome; 47,XYY syndrome; Disomy Y; Double Y; Double Y syndrome; Y disomy See More
Categories:
Chromosome Disorders; Congenital and Genetic Diseases
This disease is grouped under:
Numeric sex chromosome variations

Summary Summary


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47, XYY syndrome is a syndrome (group of signs and symptoms) that affects males. For some males with this syndrome, signs and symptoms are barely noticeable. For others, signs and symptoms may include learning disabilities, speech delay, low muscle tone (hypotonia), and being taller than expected.[1][2]                         

47, XYY syndrome is caused by having an extra copy of the Y chromosome in every cell of the body.[1] The syndrome is usually not inherited. Diagnosis can be made based on prenatal tests, or it may occur during childhood or adulthood if a male has signs or symptoms of the disease. Management may include special education as well as intervention or therapies for developmental delays.[2]
Last updated: 1/14/2018

Symptoms Symptoms


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The signs and symptoms of 47, XYY syndrome can range from barely noticeable to more severe. It is thought that some males with 47, XYY syndrome may never be diagnosed because the signs and symptoms may not be noticeable.[2] For other males, signs and symptoms such as low muscle tone (hypotonia) and/or speech delay may begin in late infancy or early childhood. Some boys with 47, XYY syndrome may have difficulty in certain subjects in school such as reading and writing. However, boys with this syndrome do not typically have intellectual disability.[1][3]

Other signs and symptoms of 47, XYY syndrome may include asthma, dental problems, and acne.[2][3][4] Boys with the syndrome don’t typically have physical features different from most people, but they may be taller than expected. These boys are not expected to have differences in the appearance of the sex organs (genitalia). Some males with 47, XYY syndrome have behavioral differences such as autism spectrum disorder (usually on the milder end) or attention deficit hyperactivity disorder (ADHD). Boys with 47, XYY syndrome are also at an increased risk to have anxiety or mood disorders.[2]

Most boys with 47, XYY syndrome go through normal sexual development, and fertility is expected to be normal. However, some boys with the syndrome may develop testicular failure (when the testes can’t produce sperm or testosterone), which can lead to problems with fertility.[2][5][6] 
Last updated: 1/14/2018

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.

Showing of 31 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
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
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Malar flattening
Zygomatic flattening
0000272
Motor delay 0001270
Tall stature
Increased body height
0000098
30%-79% of people have these symptoms
Asthma 0002099
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
0007018
Congenital stationary night blindness
Night blindness since birth
0007642
Finger clinodactyly 0040019
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Impaired social interactions
Impaired social interaction
Poor social interactions
[ more ]
0000735
Impulsivity
Impulsive
0100710
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Specific learning disability 0001328
5%-29% of people have these symptoms
Abnormality of brainstem morphology
Abnormal shape of brainstem
0002363
Azoospermia
Absent sperm in semen
0000027
Cerebellar dysplasia 0007033
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Dysgenesis of the cerebellar vermis 0002195
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypospadias 0000047
Increased circulating gonadotropin level
Elevated gonadotropins
Elevated serum gonadotropins
Gonadotropin excess
[ more ]
0000837
Increased serum testosterone level 0030088
Macroorchidism
Large testis
0000053
Male infertility 0003251
Micropenis
Short penis
Small penis
[ more ]
0000054
Oligospermia
Low sperm count
0000798
Seizure 0001250
Varicocele 0012871
Showing of 31 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


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47, XYY syndrome is caused by having an extra copy of the Y chromosome in each cell of the body.[1] The Y chromosome is one of the sex chromosomes, and the other sex chromosome is called the X chromosome. Most people have two sex chromosomes, with girls having two X chromosomes, and boys having one X and one Y chromosome.

Boys with 47, XYY syndrome have one X chromosome and two Y chromosomes in each cell of the body. This typically happens due to a random event when a sperm cell is formed that causes the sperm cell to have two Y chromosomes. When a sperm that has two Y chromosomes fertilizes an egg (which has an X chromosome), the resulting baby will be a male with two Y chromosomes and one X chromosome.[1] It is also possible that a similar random event could occur very early in an embryo’s development. This can produce a boy who has some cells that have two sex chromosomes and some cells that have an extra Y chromosome.[1]

It is not fully understood why an extra copy of the Y chromosome causes the features associated with 47, XYY syndrome. It is thought that the tall stature seen in some males with the syndrome is caused by having an extra copy of a gene that is located on the sex chromosomes called the SHOX gene. This gene provides instructions to the body to control growth of the bones. People who have an extra copy of the Y chromosome also have an extra copy of the SHOX gene, which could explain why they may be taller than expected. Another gene that is thought to cause the signs and symptoms of 47, XYY syndrome is called NLGN4Y. This gene is located on the Y chromosome and provides instructions to the body that helps form connections between the cells in the brain. It is thought that having an extra copy of this gene may cause the learning problems associated with 47, XYY syndrome.[2]
Last updated: 1/14/2018

Inheritance Inheritance


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47, XYY syndrome is usually not inherited from a parent. Instead, it is typically caused by a random event that happens during the formation of a sperm cell before conception (when the sperm fertilizes the egg). Even though this random event occurs in the sperm cell of the father of a person with 47, XYY syndrome, the syndrome is not inherited from the father because the father himself typically does not have the syndrome.[1]

It is uncommon for more than one person in a family to have 47, XYY syndrome. If a couple has a child with 47, XYY syndrome, the chances for the couple or family members to have another child with the syndrome are not increased. Men who have 47, XYY syndrome themselves are also not thought to be at an increased risk to have a child with chromosome differences. Some sperm cells of a man with 47, XYY syndrome will have an extra Y chromosome. However, it is thought that these cells are less likely to be able to survive to fertilize an egg. Therefore, the chances for a man with 47, XYY syndrome to have a child with a sex chromosome abnormality are not thought to be increased.[2]

People with questions about the chance to have a child with a chromosome abnormality are encouraged to speak with a genetic counselor or other genetics professional. 
Last updated: 1/14/2018

Diagnosis Diagnosis


Listen
47, XYY syndrome may be suspected when a doctor observes signs and symptoms that can be associated with the syndrome such as low muscle tone (hypotonia), speech delay, or learning problems in school. A doctor may then order testing to see if there is a genetic explanation for the signs and symptoms. Tests that may be ordered include:[2]
  • Karyotype: a test that is used to view all the chromosomes in a cell
  • Chromosomal microarray: a test that looks for extra or missing chromosomes or pieces of chromosomes
In some cases, 47, XYY syndrome may be suspected prenatally based on routine screening tests. A diagnosis can be confirmed with prenatal tests such as an amniocentesis or chorionic villus sampling (CVS).[2]

It is thought that some people who have 47, XYY syndrome are never diagnosed because they do not have severe signs or symptoms of the syndrome.[2] 
Last updated: 1/14/2018

Treatment Treatment


Listen
The signs and symptoms of 47, XYY syndrome can be managed with a variety of therapies. Occupational therapy may be recommended for infants and young boys who have low muscle tone (hypotonia), and speech therapy may be recommended for boys who have speech delay. Boys with 47, XYY syndrome may be in special education at school, or they may have extra help in some classes.[2][5]

Other management options for boys with 47, XYY syndrome may include behavioral therapy or medications for boys with attention deficit hyperactivity disorder (ADHD) or behavioral problems. If autism spectrum disorder is present, applied behavioral analysis (ABA) therapy may be recommended.[2] In some cases, hormonal therapy may be used.[7]
Last updated: 1/14/2018

Prognosis Prognosis


Listen
The long-term outlook for people with 47, XYY is typically good. Boys with this syndrome can do well both in school and in building social relationships. Men with 47, XYY syndrome can also have successful careers and families of their own.[2] Therapies and other management for the syndrome can be important in allowing affected males to reach their full potentials.[5]
Last updated: 1/14/2018

Organizations Organizations


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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/

Social Networking Websites

  • 47 XYY Syndrome Support Group
    Website: https://www.facebook.com/groups/47XYYSYNDROMESUPPORT/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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 Association for X and Y Chromosome Variations (AXYS) provides answers to frequently asked questions about 47, XYY syndrome. Click on the link above to view this information.
  • Genetics Home Reference (GHR) contains information on 47, XYY syndrome. This website is maintained by the National Library of Medicine.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • The Pacific Northwest Regional Genetics Group has developed a fact sheet on 47, XYY syndrome, including prenatal diagnosis. Click on the link above to view this information page.

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 47, XYY syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • 47,XYY syndrome was present in my first delivery. Is it likely to be repeated? What is the main cause of this syndrome? See answer

  • I have a 4 year old son who was diagnosed with XYY karotype about a year ago.  Lately, he has had a lot of behavior issues; he is very strong and he does throw several temper tantrums a day.  I am looking for any advice how I can redirect him and get through to him on a positive note. See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. 47,XYY syndrome. Genetics Home Reference. January 2009; http://ghr.nlm.nih.gov/condition/47xyy-syndrome.
  2. Ross J and Bishop D. XYY. Unique. 2014; http://www.rarechromo.org/information/Chromosome_Y/XYY%20FTNW.pdf.
  3. Lenroot RK. XYY Syndrome. National Organization for Rare Disorders. 2012; https://rarediseases.org/rare-diseases/xyy-syndrome/.
  4. Schedit L, Sanabe ME, and Diniz MB. Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome. Journal of the Indian Society of Pedodontics and Preventive Dentistry. October-December 2015; 33(4):347-350. https://www.ncbi.nlm.nih.gov/pubmed/26381641.
  5. Frequently Asked Questions: X and Y Chromosome Variations. The Association for X and Y Chromosome Variations (AXYS). https://genetic.org/variations/faq/.
  6. Borjian Boroujeni P, Sabbaghian M, Vosough Dizaji A, Zarei Moradi S, Almadani N, Mohammadpour Lashkari F, Zamanian MR, and Mohseni Meybodi A. Clinical aspects of infertile 47,XYY patients: a retrospective study. Human Fertility. July 18, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28715980.
  7. Samango-Sprouse C, Stapleton EJ, Lawson P, Mitchell F, Sadeghin T, Powell S, and Gropman AL. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Am J Med Genet C Semin Med Genet. June 2015; 169(2):150-157. https://www.ncbi.nlm.nih.gov/pubmed/25939399.
Do you know of a review article? We want to hear from you.
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