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There have been cases where doctors submitted the Fragile X DNA test, but not the karyotype and the lab did not identify the genetic abnormality. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. ), “Spanish: A Guide for Families and Individuals Affected by X and Y Chromosome Variations”. Life expectancy is generally normal in the absence of major complications. There is no cure for 48,XXXY syndrome. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. The XXXY variety of Klinefelter syndrome should be suspected when the following features are observed in a mentally retarded boy: decreased upper-lower body segment ratio, microcephaly, clinodactyly with brachymesophalangia of the fifth fingers, and dermatoglyphic arches on nine or ten fingers associated with attriradius in t 1 position. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. XXYY is still considered a variation of Klinefelter syndrome by some definitions, mainly because the pathophysiology of the testicular dysfunction has not been shown to differ from 47, XXY, and the most current research does not suggest that there should be any differences in the evaluation and treatment of testosterone deficiency in 48, XXYY compared to 47, XXY. 48,XXYY is a sex chromosome variation that affects one in every 17,000 boys who are born.¹ Only boys are affected and all of them have two extra sex chromosomes, one extra X and an extra Y. Do you know of a review article? 48,XXYY syndrome is a chromosomal condition that causes medical and behavioral problems in males. (Those wishing to purchase a soft-bound copy can do so at Amazon or Kindle. In the majority of cases, they will need to have constant care and will need to be in treatment for different medical problems. The condition 48,XXYY is not inherited; it usually occurs as a random event during the formation of reproductive cells (eggs and sperm). This is the case of a …  There are clinics in the United States, such as the eXtraordinarY Kids Clinic, which specializes in X & Y chromosome variations. If that sperm cell fertilizes a normal egg cell with one X chromosome, the resulting child will have two X chromosomes and two Y chromosomes in each of the body's cells. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. XXY males appear to have a higher risk of breast cancer than typical, but still lower than that of females. The 48,XXYY syndrome represents a chromosomal aneuploidy which consists in the presence of an extra X and Y chromosome in males. No. Affected males are also at risk for developing a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the legs. 48,XXYY syndrome. 48,XXYY occurs due to a spontaneous random error during cell division at conception. http://emedicine.medscape.com/article/945649-overview, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=10, http://ghr.nlm.nih.gov/condition/48xxyy-syndrome. Patients have an essentially normal life expectancy, but require regular medical follow-up. Its signs and symptoms vary among affected individuals.Most boys and men with 48,XXXY syndrome have mild intellectual disability with learning difficulties. This is possible with the early diagnosis and treatment. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) No, since 48,XXYY is a random error, it is not hereditary. XYY syndrome is a genetic condition found in males only. Recently, we assisted researchers at Emory University, an AXYS Clinic and Research Consortium (ACRC) member, by wholly funding the following study: “The Relationship of Physical Function and Psychosocial Health on Quality of Life in Individuals with 48,XXYY.” Klinefelter Syndrome Life Expectancy. CGH Array is a very new test and is not always covered by insurance. No.  This is largely due to other diagnoses giving throughout childhood which have been used to rationalize their behaviors (i.e. Please feel free to download and/or print it for your personal use. Most of the time, when doctor sends a genetic work-up for Fragile X, they also send a karyotype test. Most will only ever see one: your child. Large deletions or duplications will show up through this testing, but smaller deletions or duplications will not. Have a question? Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is ... 1 More on 48,XXYY syndrome » Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. People with the condition have a nearly normal life expectancy. 48,XXYY syndrome: Overview. 48,XXYY syndrome is a chromosomal condition that causes medical and behavioral problems in males. (AXYS special note: Also includes information on XXYY), Thanks to the generosity of the book’s author, Virginia Isaac’s Cover, MSW, AXYS is pleased to make this book available to the X and Y variation community, in its entirety, at no cost. 49,XXXXY syndrome can affect many parts of the body. In some instances, a boy can have some normal XY cells and some XXYY cells, this is called . Affected people typically have delayed growth (often seen in utero, before birth). Due to the rare nature of 48,XXYY, it is uncommon to find individual doctors, or therapists that have experience with 48,XXYY. You can help advance All proceeds from the sale of this book benefit AXYS. XXYY SYNDROME Life Expectancy Treatment for the Disorder 1 to 55 years Testosterone treatment and possible psychotropic medications if needed. The occurrence of 48, XXYY is 1 in 17,000 live male births. Does the High Resolution Chromosome Testing/ Karyotype also detect deletions and duplications on the X&Y chromosomes? In theory, a cure would mean that every cell in the body of a person with 48,XXYY would have to have the additional X and Y chromosome removed. Get the latest research information from NIH: https://covid19.nih.gov (link is external), 48,XXYY syndrome can affect other parts of the body as well. You may want to review these resources with a medical professional. Treatment depends on the symptoms present in each individual and is best managed by a team of specialists, including cardiologists, orthopedists, speech therapists, neurologists, and endocrinologists. Contact a GARD Information Specialist. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. So a boy with XYY or XYYY could go undetected.  The XXYY Project recommends that all parents join our parent network, as we are continuously encouraging parents to share additional diagnoses to see if there might be a link. Life Expectancy. We remove all identifying information when posting a question to protect your privacy. It is generally recommended that boys and men are treated with testosterone as it affects not only their physical well-being, but has emotional and psychological benefits. This means that an normal sperm cell with one Y chromosome fertilized a normal egg cell with one X chromosome, but right after fertilization nondisjunction of the sex chromosomes caused the embryo to gain two extra sex chromosomes, resulting in a 48,XXYY embryo. Parents should be sure that the karyotype for their son has been confirmed to be 46,XY and that the Fragile X DNA test has been sent. As affected males get older, they may develop a narrowing of the blood vessels in the legs, called peripheral vascular disease. 48,XXYY disrupts male sexual development. Many boys and men with XXYY have similar facial features, plus several other physical features that are associated with the condition. There is no evidence that parents of one XXYY child are more likely to have other children with sex chromosomal variations. [3][1], Most males with 48,XXYY syndrome have some degree of difficulty with speech and language development. rare disease research! XXYY is often mistaken for other syndromes. Boys with XYY syndrome — also known as 47,XYY — might be taller than other boys. What is the name of the test that would be used to detect the extra X&Y chromosomes? Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). Sex chromosomal variations in general are actually quite common. Adolescent and adult males with this condition typically have small, expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Yes. The Syndrome XYY does not affect the life expectancy of a person at all. We want to hear from you. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 … There are important differences, between boys and men with 47,XXY and those with 48,XXYY and some authors have questioned whether 48,XXYY males should be included under the umbrella of Klinefelter Syndrome.². A karyotype is the only way to know for certain that a boy or man has 48,XXYY. For those individuals who survive infancy and early childhood, the life expectancy for an individual with DiGeorge syndrome is that they can live a normal lifespan. Life expectancy of people with 48,XXYY syndrome and recent progresses and researches in 48,XXYY syndrome An extra Y chromosome is never found on a Fragile X test, because they are looking at a gene on the X chromosome in Fragile X. Parents who have one child diagnosed with 48,XXYY are no more likely to have a second. But, this is not always the case. Learning disabilities, especially reading problems, are very common in males with this disorder. Can those with 48,XXYY also have other medical diagnoses, like autism? What is the normal IQ range of boys and men with 48,XXYY? The appearance of at least one Y chromosome with a properly … We want to hear from you. 48 XXYY Syndrome 48 XXYY is a chromosome anomaly that affects a very small percentage of boys globally and whilst our counterparts in the US have been studying this for a number of years and have amassed a substantial body of knowledge on the condition, leading the medical and social studies, in the UK the condition is relatively unknown, un-diagnosed and most … Males with 48,XXYY syndrome are often taller than other males their age. XXYY Syndrome is the name attached to the cluster of symptoms that arise as a result of the 48,XXYY chromosome pattern. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Another test called the CGH Array , which is not widely used yet, looks at the X & Y chromosomes at a higher resolution and would detect the smaller deletions or duplications. 48,XXYY Klinefelter syndrome; 48,XXYY variant of Klinefelter's syndrome; XXYY syndrome, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, attention deficit hyperactivity disorder (ADHD. XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. How can we make GARD better? Research on 48,XXYY Syndrome is incomplete. 48,XXYY is one of several types of sex chromosome variations, including those that are considered as variants of Klinefelter Syndrome, 47,XXY and XXXY, XXXXY, XY/XXY and another syndrome called XYY, all of which affect males. Affected males seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. In support of our mission, the XXYY Project raises funds to further research on 48,XXYY Syndrome. Do all boys and men with 48,XXYY take testosterone? ORPHANET USER SATISFACTION SURVEY 2021 Dear Orphanet User, Your opinion is essential in improving the services offered by Orphanet. The XXYY Syndrome, also known as 48,XXYY, is a relatively uncommon sex chromosome variation. In fact, with early intervention and treatment, the problems associated with this rare chromosomal disorder can be solved completely in just a few years. Diagnosing 48,XXYY requires a genetic test called a karyotype. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Dental problems are frequently seen with this condition; they include delayed appearance of the primary (baby) or secondary (adult) teeth, thin tooth enamel, crowded and/or misaligned teeth, and multiple cavities. Most typically, boys have the extra chromosomes in every cell in their body, but a few have some cells with a different number of sex chromosomes. They can direct you to research, resources, and services. We want to hear from you. We're fully delving into all things everything. How do I know if another medical diagnoses is due to 48,XXYY? Xyy syndrome life expectancy Download Here Free HealthCareMagic App to Ask a Doctor All the information, content and live chat provided on the site is intended to be for informational purposes only, and not a substitute for professional or medical advice. Yes, an amniocentesis looks at the karyotype, so they will see if there is an extra X and/or Y chromosome. ... Prognosis While there is no cure, with appropriate treatment for associated medical and psychiatric conditions, life expectancy is typically normal. XXYY syndrome is a sex chromosome anomaly that is thought to occur in about one in 18,000 males in the general population. In 48,XXYY syndrome, the extra sex chromosomes almost always come from a sperm cell. Questions sent to GARD may be posted here if the information could be helpful to others. It has an incidence of 1/18 000 to 1/50000 male births. © Copyright 2016 AXYS | All Rights Reserved |, Research & Treatment Articles – all variations. Affected males have higher than average rates of behavioral disorders, such as attention deficit hyperactivity disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and/or autism spectrum disorders, which affect communication and social interaction.[3]. The main associated disorders are varicose veins, thrombosis, embolism, type 2 diabetes, bone fractures, epilepsy, and other neurologic and mental disorders, shortening life expectancy by 11.5 years. The occurrence of Klinefelter Syndrome, XXY, is 1 in 500. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. The in-depth resources contain medical and scientific language that may be hard to understand. Please read our notice on XXYY and Intersex Conditions. Prognosis. The most common symptoms and characteristics that would be noticeable by parents, teachers, medical professionals and other treatment providers are: (Not all boys with XXYY Syndrome experience all of these symptoms). 48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes).People normally have 46 chromosomes in each cell. About 1 in 1,000 boys have it. At this time there is no known cause, such at maternal age, for 48,XXYY. 48,XXYY is not an Intersex condition or indication. XXYY is still considered a variation of Klinefelter syndrome by some definitions, mainly because the pathophysiology of the testicular dysfunction has not been shown to differ from 47, XXY, and the most current research does not suggest that there should be any differences in the evaluation and treatment of testosterone deficiency in 48,XXYY compared to 47, XXY. Does an amniocentesis include testing for extra X&Y chromosomes? Boys and men with 48,XXYY have a varied range of IQ abilities, much like the general population. A 17 year-old-boy with a diagnosis of 48, XXYY syndrome, presented with suicidal ideation and auditory hallucinations.He has had history of problematic sexual behaviors since age six. These features are not puberty … The occurrence of Klinefelter Syndrome, XXY, is 1 … Do you have updated information on this disease? The occurrence of 48, XXYY is 1 in 17,000 live male births. If a Fragile X test was done, would they have looked for extra X&Y chromosomes at the same time? Where can I find medical professionals who know about 48,XXYY?  Does your son or patient look like the boys and men in these photos?  These are all different boys and men. https://genetic.org/variations/about-xxyy/. Similar female syndromes include Turner Syndrome (XO) and several variations with added X’s. More clinics are opening and together with AXYS, we are to continuing to build a whole network of them. XYY syndrome life expectancy Two large follow up studies of men with XXY syndrome have revealed that they are likely to die younger than other men. We want to hear from you. Since the mid-1980s, the clinical spectrum of the syndrome has expanded to include patients with pure cell lines or mosaicisms with two or more X chromosomes and a Y chromosome. Behavioral problems can also … They tend to develop a tremor that typically starts as a young adult and worsens with age. Physical therapy may also be needed. XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Treatment options vary by country and region, and as with any medical treatment, individual choice is always a factor. There has also been one reported case of a father with XYY having a son with XXYY. Chromosomes are packages of genes found in every cell in the body. For a long time 48,XXYY syndrome was considered as a variant of Klinefelter syndrome, but nowadays it is treated as a distinct disorder. XYY syndrome can’t be cured. learning disabilities, ADD). Some have short stature and a deficit of growth hormones. Sex chromosomal variations in general are actually quite common. Peripheral vascular disease can cause skin ulcers to form. One study of all men diagnosed with XXY syndrome in a single country, Denmark, showed that life expectancy for men with XXY syndrome was 10 years less than for others, with men with XXY syndrome dying on average at 68 years rather than 78 23) . 48,XXYY affects various body systems including disruption of male sexual development. Due to the rare nature of 48,XXYY Syndrome, it is often through anecdotal information of connected parents who discover links that may indicate a diagnoses is related to 48,XXYY Syndrome. We discuss his clinical presentation and highlight his behavioral issues, which may be due to low intelligence, sexual abuse, neglect or a behavior pattern of a person with 48, XXYY syndrome. Autism has also been associated with Klinefelter Syndrome (XXY).⁴. The geneticist may determine if other specific testing needs to be done. We're fully delving into all things everything.  In fact, unless diagnosed in utero, or in early childhood, many boys and men are not diagnosed with 48,XXYY Syndrome until their late teens, when low testosterone symptoms begin to manifest. Human cells usually contain two sex chromosomes, one from the mother and one from the father. This video series is something special. There may be varying degrees of learning difficulty and intellectual disability which can be severe; some report that this worsens with age. In a small percentage of cases, 48,XXYY syndrome results from nondisjunction of the sex chromosomes in a 46,XY embryo very soon after fertilization has occurred. The test is done by drawing blood and an analysis is done on the cells of the blood to determine the boy or man’s chromosomal make-up. 48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Also, please see the professional directory for a list of providers who have experience with X & Y chromosome variations. IQ scores can be extremely subjective, and are not always an indicator of academic or career success.  However, treatments for the various symptoms and other overlapping diagnoses is normal for those diagnosed with 48,XXYY Syndrome. 48,XXYY disrupts male sexual development. Not completely understood chromosomes ( XX ) and several variations with added X’s in the of! Will need to have other children with sex chromosomal variations in general actually... 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Starts as a young adult and worsens with age these photos? â these are all xxyy syndrome life expectancy and. Different boys and men many parts of the test that would be used rationalize! €¦ life expectancy Although many genetic syndromes used to cause premature death, improvement of care. And Intersex conditions have experts who serve as medical advisors or provide lists of doctors/clinics chromosome karyotype. Large deletions or duplications will show up through this testing, but still lower than of... Due to 48, XXYY are no more likely to have xxyy syndrome life expectancy care and will need to be.... More likely to have other medical diagnoses, like autism patients are now reaching adult age, for,!

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