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XYY syndrome is a genetic condition found in males only. Qualitatively, males in the XXYY group had a higher incidence of colpocephaly (84% vs. 34%, p ≤ 0.001), white matter lesions (25% vs. 5%, p = 0.007), and thin posterior body of the corpus callosum (28% vs. 3%, p = 0.001). Abstract. Motion artifact in magnetic resonance imaging: implications for automated analysis. Some boys with 48,XXYY syndrome have delayed development of motor skills such as sitting, standing, and walking that can lead to poor coordination. Do you know of a review article? To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. [3][1], Most males with 48,XXYY syndrome have some degree of difficulty with speech and language development. NeuroImage. 2012 Dec;54(12):1149-56. doi: 10.1111/j.1469-8749.2012.04418.x. XYY syndrome is a genetic condition that occurs when a male is born with an extra Y chromosome. The appearance of at least one Y chromosome with a properly functioning SRYgene makes a male. Only boys are affected and all of them have two extra sex chromosomes, one extra X and an extra Y. The specificity of these findings may shed light on the role of the X and Y chromosomes in typical and atypical brain development and help provide direction for future studies of brain-behavior relationships in males with XXYY syndrome. 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. 48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 2007 Jan;119(1):e232-40. XXYY is often mistaken for other syndromes. Advances in research on the neurological and neuropsychiatric phenotype of Klinefelter syndrome. Autism spectrum disorder and ADHD have been reported in XXYY syndrome . The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. Males with XXYY syndrome often have speech-language disorders, social–emotional difficulties, cognitive impairments, poor visual– perceptual skills and are also more likely to have hyperactive/ impulsive symptoms . Cytogenet. 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 … Berument S.K., Rutter M., Lord C., Pickles A., Bailey A. Autism screening questionnaire: diagnostic validity. FOIA 1. Although XXYY syndrome shares some physical features with XXY syn-drome, XXYY syndrome appears to have a unique cognitive and behavioral profile and should be distinguished as its own behavioral phenotype. Males with 48,XXYY syndrome are often taller than other males their age. https://genetic.org/variations/about-xxyy/. 2013;2:197–203. Sørensen K, Nielsen J, Jacobsen P, Rølle T. PMID: 568179 [PubMed - indexed for MEDLINE] ... discussions on topics that affect our daily life in the UK or are interested in meeting other families living with 48 XXYY syndrome, subscribe to our mailing list. 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. 2 The XXYY Syndrome, also known as 48,XXYY, is a relatively uncommon sex chromosome variation. Pediatrics. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Staying safe in the Virtual World – Articles written by West Herts College on staying safe online. Characteristics of XXYY Syndrome. Inclusion on this list is not an endorsement by GARD. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. Some boys with 48,XXYY syndrome have delayed development of motor skills such as sitting, standing, and walking that can lead to poor coordination. Little is known about the sexual behavior patternin a case of XXYY syndrome. The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. or a behavior patternof a person with 48, XXYY syndrome. Learning disabilities, especially reading problems, are very common in males with this disorder. 48, XXYY boys usually develop a tremor during adolescence which typically worsens as they age. 73 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. Prevention and treatment information (HHS). Br. Scientificliterature suggests that children at high risk for problematicsexual behavior are those with intellectual disability, history of sexual abuse, neglect, or geneticsyndromes. Males with XXYY syndrome have 48 chromosomes instead … 48, XXYY syndrome is extremely rare with an incidence of 1:18000-1: 100,000 males. 44 48,XXYY syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males. 48, XXYY; Brain anatomy; Sex chromosomes aneuploidy; White matter lesions. Blumenthal J.D., Baker E.H., Lee N.R., Wade B., Clasen L.S., Lenroot R.K., Giedd J.N. 49,XXXXY 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). Giedd JN, Clasen LS, Wallace GL, Lenroot RK, Lerch JP, Wells EM, Blumenthal JD, Nelson JE, Tossell JW, Stayer C, Evans AC, Samango-Sprouse CA. We discuss to have externalizing behavior, while IQ does not correlate with externalizing behaviors in XXYY syndrome. Curr Opin Neurol. 8600 Rockville Pike 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, 48,XXYY affects various body systems including disruption of male sexual development. Orphanet: ORPHA10. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. 48, XXYY syndrome is a chromosomal condition that causes medical and behavioral problems in males. Although XXYY syndrome shares some physical features with XXY syn-drome, XXYY syndrome appears to have a unique cognitive and behavioral profile and should be distinguished as its own behavioral phenotype. Objective: To contrast the behavioral and social phenotypes including a screen for autistic behaviors in boys with 47,XYY syndrome (XYY) or 47,XXY Klinefelter syndrome (KS) and controls and investigate the effect of prenatal diagnosis on the phenotype. Definition. 1999;175:444–451. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. Clipboard, Search History, and several other advanced features are temporarily unavailable. They tend to develop a tremor that typically starts as a young adult and worsens with age. Mol. The most common symptoms and characteristics that would be noticeable by parents, teachers, medical professionals and other treatment providers are: Developmental delays; Speech impairment or delay; Tall, considering family history; Behavior outbursts & mood swings As affected males get older, they may develop a narrowing of the blood vessels in the legs, called peripheral vascular disease. 2013;6(1):25. Epub 2012 Oct 12. 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. Please enable it to take advantage of the complete set of features! The Child Behavior Checklist and related forms for assessing behavioral/emotional problems and competencies. Would you like email updates of new search results? 48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report. Despite XXYY syndrome initially being considered a variant of Klinefelter syndrome, now it is widely regarded as a separate clinical syndrome with psychological, morphological, and neurodevelopmental involvement [9,10,11].While it is a sex chromosome aneuploidy, studies of live births reported a relatively rare incidence of 1:18000–1:50000 [3, 10]. 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. 2012 Apr;25(2):138-43. doi: 10.1097/WCO.0b013e32835181a0. 48,XXYY disrupts male sexual development. XXYY syndrome is a sex chromosome anomaly that is thought to occur in about one in 18,000 males in the general population. 48,XXYY disrupts male sexual development. A rare sex chromosome abnormality in which a male child has an extra X and Y chromosome. Pediatr. Email. Privacy, Help Perobelli S, Alessandrini F, Zoccatelli G, Nicolis E, Beltramello A, Assael BM, Cipolli M. Neuroimage Clin. 2002;16(1):89–92. Have a question? J Med Case Rep. 2020 May 11;14(1):58. doi: 10.1186/s13256-020-02375-z. Questions sent to GARD may be posted here if the information could be helpful to others. Syndrome 48 xyyy. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) “The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. Detailed examination of the history and behavioral symptoms of an adolescent boy with a 48,XXYY chromosome complement reveals that his emotional and behavioral symptoms have features in common with what has been reported for individuals with the 47, XXY complement and for those with the 47,XYY complement. Additionally, males with 48,XXYY syndrome may have flat feet (pes planus), elbow abnormalities, allergies, asthma, type 2 diabetes, seizures, and congenital heart defects. 2006 Oct 24;1:42. doi: 10.1186/1750-1172-1-42. The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. Brain morphological abnormalities in 49, XXXXY syndrome: a pediatric magnetic resonance imaging study. to have externalizing behavior, while IQ does not correlate with externalizing behaviors in XXYY syndrome. You may want to review these resources with a medical professional. XXYY is most often diagnosed postnatally via genetic testing prompted by concerns regarding delayed development ( Tartaglia et al., 2008 ). The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physi… XXYY syndrome occurs in approximately 1:18,000–1:40,000 males. Orphanet J Rare Dis. We want to hear from you. 48,XXYY syndrome; Klinefelter syndrome, variants. The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. About 1 in 1,000 boys have it. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). 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. Classic Klinefelter Syndrome (KS) with 47, XXY karyotype has well recognized clinical features which includes seminiferous tubule dysgenesis, androgen deficiency, cognitive and behavioral dysfunction, increased risk of autoimmune disorders, thromboembolic disease and cancer. doi: 10.1542/peds.2005-2969. J Ment Defic Res. Bethesda, MD 20894, Copyright You can help advance Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is... 1 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. We remove all identifying information when posting a question to protect your privacy. This site needs JavaScript to work properly. We want to hear from you. In 48,XXYY syndrome, the extra sex chromosomes almost always come from a sperm cell. The in-depth resources contain medical and scientific language that may be hard to understand. Achenbach T.M., Ruffle T.M. The phenotype of 48, XXYY syndrome (r eferred to as XXYY) i s associated with ch aracteristic but variable developmen tal, cognitiv e, behavioral an d physical abno rmalities. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. Do you have updated information on this disease? 48,XXXY syndrome is a type of chromosome abnormality characterized by the presence of 2 extra X chromosomes in males. Affected males seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. Careers. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Contact a GARD Information Specialist. However, for the psychological and behavioral symptoms of XXYY syndrome, more extensive evaluations, interventions, and supports are usually needed compared to 47, XXY due to more complex neurodevelopmental involvement. Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. Methods: Patients included 26 boys with 47,XYY, 82 boys with KS, and 50 control boys (ages 4-15 years). National Library of Medicine They can direct you to research, resources, and services. These resources provide more information about this condition or associated symptoms. Rev. Boys with XYY syndrome — also known as 47,XYY — might be taller than other boys. Instead of having one X and one Y sex chromosome, those with XYY syndrome have one X … Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. 2000;21(8):265–271. Neuroimage Clin. Peripheral vascular disease can cause skin ulcers to form. rare disease research! SNOMED CT: XXYY syndrome (403760006) Monarch Initiative: MONDO:0015028. 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. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe. Therefore, humans with XXYY are genotypically male. 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]. 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 48,XXYY syndrome. Chromosomes are packages of genes found in every cell in the body. How Anxiety leads to disruptive behaviour. Boys with 48, XXYY may have low testosterone, which can affect development and fertility. Unable to load your collection due to an error, Unable to load your delegates due to an error. 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. 2015 Feb 27;7:721-31. doi: 10.1016/j.nicl.2015.02.014. Accessibility Visit the group’s website or contact them to learn about the services they offer. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Quantitatively, males in the XXYY group had smaller gray and white matter volumes of the frontal and temporal lobes. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. Bryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, Reiss AL. Nondisjunction may cause a sperm cell to gain two extra sex chromosomes, resulting in a sperm cell with three sex chromosomes (one X and two Y chromosomes). The condition 48,XXYY is not inherited; it usually occurs as a random event during the formation of reproductive cells (eggs and sperm). Blumenthal J.D., Zijdenbos A., Molloy E., Giedd J.N. Several studies and case reports have shown that the use of testosterone therapy in a safe manner can improve behavior and other symptoms for boys with 48, XXYY. Do you know of an organization? Its signs and symptoms vary among affected individuals.Boys and men with 49,XXXXY syndrome have mild or moderate intellectual disability with learning difficulties. While little is known about the brain in XXYY, the developmental, cognitive, social, affective, and behavioral aspects of the syndrome are well documented. Keywords: 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. If you do not want your question posted, please let us know. We want to hear from you. a genetic condition characterized by a sex chromosome aneuploidy, where males have two extra X chromosomes. XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study. Klinefelter syndrome and other sex chromosomal aneuploidies. XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Conversely, both gray and white matter volumes of the parietal lobe as well as lateral ventricular volume were larger in the XXYY group. Human cells usually contain two sex chromosomes, one from the mother and one from the father. 1978 Sep;22(3):197-205. J. Psychiatry. eCollection 2015. Balsera A.M., Estévez M.N., Beltrán E.B., Sánchez-Giralt P., García L.G., Moreno T.H., García de Cáceres M., Carbonell Pérez J.M.C., Gómez E.G., Rodríguez-López R. Distinct mechanism of formation of the 48, XXYY karyotype. Dev Med Child Neurol.

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