How do they diagnose xyy syndrome
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What is Andropause? Depending on which symptoms a boy has and how severe they are, doctors may recommend various treatments. Boys who have XYY syndrome are born with it. It's called XYY because they have an extra Y chromosome in most or all their cells.
Usually, a person has 46 chromosomes in each cell, divided into 23 pairs, which includes two sex chromosomes. Half the chromosomes are inherited from the father and the other half from the mother. The chromosomes contain genes, which determine an individual's characteristics, such as eye color and height. XYY syndrome is not caused by anything the parents did or did not do. The disorder is a random error in cell division.
This error can happen before conception in the reproductive cells of the mother or the father, or early in the embryo's development. When the extra chromosome is the result of incorrect cell division early in the embryo's development, a boy may have a mosaic form of XYY syndrome.
This means some cells have an extra Y chromosome, but not all do. Boys with mosaic XYY syndrome usually have fewer symptoms. Noticeable signs and symptoms of XYY syndrome can vary greatly. Some boys have no obvious signs, while others have mild symptoms.
Occasionally, the disorder causes significant problems. Some boys also may have delayed development of their social, language, and learning skills. They also can have problems with reading and understanding math, and may have mild delays with coordination.
These problems might ease as they get older and reach adulthood. Otherwise, treatment can help manage these issues.
A small number of boys may have increased testicular size for their age, or have an increased risk for asthma and seizures. Gonadotropin excess. Large testis. Short penis. Small penis. Low sperm count. Do you have more information about symptoms of this disease? We want to hear from you. Do you have updated information on this disease? Cause Cause.
Most people have two sex chromosomes, with girls having two X chromosomes, and boys having one X and one Y chromosome. 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.
This can produce a boy who has some cells that have two sex chromosomes and some cells that have an extra Y chromosome.
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.
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. Inheritance Inheritance. 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.
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.
Diagnosis Diagnosis. 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. Treatment Treatment. 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.
If autism spectrum disorder is present, applied behavioral analysis ABA therapy may be recommended. Prognosis Prognosis.
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. Organizations Organizations. Organizations Supporting this Disease.
Social Networking Websites. Do you know of an organization? Learn More Learn More. Click on the link above to view this information. 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. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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. 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. Submit a new question 47,XYY syndrome was present in my first delivery.
See answer I have a 4 year old son who was diagnosed with XYY karotype about a year ago. See answer Have a question? References References.
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