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We present this case report of a 17 year-old male, who was diagnosed with 48, XXYY syndrome by karyotyping and review 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). 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. 1999;175:444–451. XXYY syndrome is a sex chromosome anomaly that is thought to occur in about one in 18,000 males in the general population. 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. 2012 Dec;54(12):1149-56. doi: 10.1111/j.1469-8749.2012.04418.x.  |  Pediatr. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and … Hanley AP, Blumenthal JD, Lee NR, Baker EH, Clasen LS, Giedd JN Neuroimage Clin 2015;8:133-9. This syndrome is usually inherited via a new mutation in one of the parents’ gametes, as those affected by it are usually infertile. The original studies of the XYY syndrome, which were performed in prisons, suggested that the disorder expressed itself as deviant, violent, and aggressive behavior. Objective: Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. 48,XXYY syndrome. CLINICAL AND BEHAVIORAL FEATURES OF PATIENTS WITH BORJESON-FORSSMAN-LEHMANN SYNDROME WITH MUTATIONS IN PHF6 JEANNIE VISOOTSAK,MD,BETH ROSNER,PHD, ELISABETH DYKENS,PHD, CHARLES SCHWARTZ,PHD, KIMBERLY HAHN,MS,SUSAN M. WHITE,MD, ROXY SZEFTEL,MD,AND JOHN M. GRAHAM,JR,MD,SCD Objective To describe clinical and behavioral … Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). XXYY syndrome is a sex chromosome anomaly that is thought to occur in about one in 18,000 males in the general population. Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male … 44 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. eCollection 2015. These problems might ease as they get older and reach adulthood. XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study. The XXYY Syndrome, also known as 48,XXYY, is a relatively uncommon sex chromosome variation. 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. Date of Publication: April 15, 2015 “The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and … If hypogonadism is present, testosterone treatment should be considered in all individuals regardless of cognitive abilities due to positive effects on bone health, muscle … The Child Behavior Checklist and related forms for assessing behavioral/emotional problems and competencies. Would you like email updates of new search results? Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. XXYY is a rare X and Y chromosome variant which is not greatly understood. Results. 2006 Oct 24;1:42. doi: 10.1186/1750-1172-1-42. XXYY syndrome, there is no conclusive evidence of increased risk of psychiatric pathology. While there are case reports on medical and psychological problems in patients with XXYY syndrome , the literature is limited in regard to their problematic sexual behavior. Mol. Dev Med Child Neurol. Introduction. Instead of the typical XY chromosomes in men, they have XXY, so … J Med Case Rep. 2020 May 11;14(1):58. doi: 10.1186/s13256-020-02375-z. Conversely, both gray and white matter volumes of the parietal lobe as well as lateral ventricular volume were larger in the XXYY group. 48,XXYY syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males. 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 … The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. Brain and behavior in 48, XXYY syndrome. There are few reports addressing risk taking behavior or sexual impulsivity in 48, XXYY syndrome [7]. NLM This site needs JavaScript to work properly. USA.gov. Quantitatively, males in the XXYY group had smaller gray and white matter volumes of the frontal and temporal lobes. The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. Bryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, Reiss AL. Social and Behavioral Symptoms. Usually, females have two X chromosomes and males … Pediatrics. There is a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, taurodontism, and infertility. J. Psychiatry. Human cells usually contain two sex chromosomes, one from the mother and one from the father. 48, XXYY; Brain anatomy; Sex chromosomes aneuploidy; White matter lesions. Using a nationwide approach, we show that men diagnosed with KS (47,XXY) and 47,XYY are more frequently convicted for sexual abuse, burglary, arson and other reasons. Characteristics of XXYY Syndrome. 1. XXYY syndrome occurs in approximately 1:18,000–1:40,000 males. These are named either X or Y. Brain morphological abnormalities in 49, XXXXY syndrome: a pediatric magnetic resonance imaging study. 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]. Proc. Orphanet J Rare Dis. Recent clinical studies. An attempt has been made to differentiate this syndrome from the "classical" Klinefelter syndrome (47,XXY) on clinical grounds. Management. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. XXYY is often mistaken for other syndromes. B) 57:83-88, 1981. 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. Some boys with XYY syndrome may develop behavioral problems, such as ADHD, autism, explosive temper, impulsivity, or defiant behavior. Epub 2012 Oct 12. Clipboard, Search History, and several other advanced features are temporarily unavailable. Article Title: Brain and behavior in 48, XXYY syndrome, Authors: Alli P. Hanley, Jonathan D. Blumenthal, Nancy Raitano Lee, Eva H. Baker, Liv S. Clasen, Jay N. Giedd, “The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. 2013;6(1):25. 2007 Jan;119(1):e232-40. Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. Only boys are affected and all of them have two extra sex chromosomes, one extra X and an extra Y.  |  Boys and men with 48,XXXY syndrome have … 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.”, © Copyright 2016 AXYS | All Rights Reserved |, Research & Treatment Articles – all variations. Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. (Ser. 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). 2015 Feb 27;7:721-31. doi: 10.1016/j.nicl.2015.02.014. Males in the XXYY group were recruited nationally via advertisements on the websites of... 3. 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 » Its mission is to build the capacity of parents and service providers to assist males with XXYY syndrome in leading purposeful, productive lives. XYY syndrome is a genetic condition that occurs when a male has an extra copy of the Y chromosome in each of their cells (XYY). 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. 48,XXYY can be considered a variant of Klinefelter syndrome. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Etiology. Jpn. Index Terms: Klinefelter syndrome Ishitobi K, Hoshino E, Nakada N, Harada Y: 46,XY/47,XYY/48,XXYY mosaicism in an infertile man. Perobelli S, Alessandrini F, Zoccatelli G, Nicolis E, Beltramello A, Assael BM, Cipolli M. Neuroimage Clin. NIH Materials and methods. Rev. If hypogonadism is present, testosterone treatment should be considered in all individuals regardless of cognitive abilities due to positive effects on bone health, muscle strength, fatigue, and endurance, with possible mental health/behavioral benefits, as well. HHS Epub 2015 Apr 15 doi: 10.1016/j.nicl.2015.04.009. Most typically, boys have the extra chromosomes in every cell in their body, but a few have some cells with a different Conversely, both gray and white matter volumes of the parietal lobe as well as lateral ventricular volume were larger in the XXYY group. 2013;2:197–203. Br. 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 XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. XXYY syndrome (referred to as XXYY) is a form of sex chromosome aneuploidy (SCA) originally described... 2. Many of the social and behavioral symptoms in KS may result from the language and learning difficulties. Quantitatively, males in the XXYY group had smaller gray and white matter volumes of the frontal and temporal lobes. 48,XXXY syndrome is a type of chromosome abnormality characterized by the presence of 2 extra X chromosomes in males. 2012 Apr;25(2):138-43. doi: 10.1097/WCO.0b013e32835181a0. The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. Brain and behavior in 48, XXYY syndrome 1. Description. Please enable it to take advantage of the complete set of features! 48,XXYY syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males. Sometimes, this mutation is … 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. doi: 10.1542/peds.2005-2969. For instance, boys with KS who have language difficulties might hold back socially and could use help building social relationships. In retrospect, the population base for those studies had tainted the results. XXYY syndrome; Follow this link to review classifications for XXYY syndrome in Orphanet. Berument S.K., Rutter M., Lord C., Pickles A., Bailey A. Autism screening questionnaire: diagnostic validity. Sex chromosome tetrasomy and pentasomy conditions occur in 1:18 000–1:100 000 male births. Motion artifact in magnetic resonance imaging: implications for automated analysis. Acad. 48,XXYY disrupts male sexual development. Curr Opin Neurol. Advances in research on the neurological and neuropsychiatric phenotype of Klinefelter syndrome.  |  2002;16(1):89–92. 2000;21(8):265–271. 48,XXYY syndrome is a chromosomal condition that causes medical and behavioral problems in males. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. Traffic offenses are seen less frequently in both groups. 48,XXYY disrupts male sexual development. Collapse Section. With their size and behavior, affected men were labeled “super-males.”. Patients generally need to be followed by an endocrinologist. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. A karyotype is done to diagnose XXYY syndrome. Through this case report we present sexual behavior in a patient of XXYY syndrome, such as: exhibitionism, voyeurism, fellatio and cunnilingus. Treatment consists of medications, behavioral therapies, and intensive community support. Klinefelter syndrome and other sex chromosomal aneuploidies. Chromosomes are packages of genes found in every cell in the body. XXXY syndrome is therefore often referred to as 48,XXXY. COVID-19 is an emerging, rapidly evolving situation. Otherwise, treatment can help manage them. Achenbach T.M., Ruffle T.M. In … 48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report. Boys with KS, compared to typically developing boys, tend to be: Quieter Keywords: 48,XXYY syndrome was initially considered a variant of Klinefelter’s syndrome .Nowadays, it is accepted as a distinct clinical and genetic entity (2, 3).Individuals with this syndrome are more aggressive, more intellectually handicapped, and taller than people with Klinefelter’s syndrome .Children and adolescents with 48,XXYY syndrome often come to psychiatrists for behavioral … The XXYY Project was founded in 2003 and is a project of the Colorado Nonprofit Development Center, a 501(c)3 non-profit organization. NeuroImage. Neuroimage Clin. to have externalizing behavior, while IQ does not correlate with externalizing behaviors in XXYY syndrome. Introduction. Cytogenet. Blumenthal J.D., Zijdenbos A., Molloy E., Giedd J.N. Key messages. Blumenthal J.D., Baker E.H., Lee N.R., Wade B., Clasen L.S., Lenroot R.K., Giedd J.N. 48,XXXY syndrome is a sex chromosome disorder in boys and men that results from having two extra X chromosomes in each cell. 48,XXYY disrupts male sexual development. 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. Patients generally need to be followed by an endocrinologist. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe. 46 chromosomes in each cell, two of which are the sex chromosomes, from... Pediatric quantitative brain magnetic resonance imaging case-control study with KS who have difficulties. ( 2 ):138-43. doi: 10.1186/s13256-020-02375-z boy is born with an extra X and an extra chromosomes. 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