Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation Heart Lung Circ . Bon à savoir : il existe des formes variantes ou apparentées au syndrome de Klinefelter, caractérisées par deux ou trois chromosomes X supplémentaires ou un chromosome X et un chromosome Y supplémentaires. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. 2000;(30 Pt 5):355-7. What exactly is Klinefelter Syndrome? Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … Sa formule chromosomique s'écrit «47,XXY ». Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. Boys and men with Klinefelter syndrome are still genetically male and often will not realize they have this extra X chromosome (47, XXY), but occasionally it can cause problems that may require treatment, problems such as a small penis, small testes and infertility. Klinefelter syndrome occurs if boys are born with an extra X chromosome. Les enfants porteurs du syndrome de Klinefelter n’ont pas de déficit intellectuel, avec des variations comme dans la population générale. Klinefelter syndrome is a genetic condition that affects males physical, behavioral, and cognitive development and functioning. Can J Genet Cytol 16:239, 1974 . Les conséquences de ces formes très rares sont très différentes de celles du syndrome de Klinefelter. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. modifier - modifier le code - voir Wikidata (aide). Klinefelter syndrome; Share this content: Share this content: × Copy Link. Plusieurs formes de syndrome de Klinefelter sont connues : La maladie est liée à un accident génétique, les parents ne sont pas porteurs d’une anomalie. Pour les enfants présentant des difficultés d'apprentissage, la mise en place d'une prise en charge précoce et classique en orthophonie et en ergothérapie peut aider. L’anomalie résulte d’une mauvaise séparation des chromosomes parentaux lors de la synthèse des spermatozoïdes ou des ovules. L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. Support for Patients and Families. Mosaic Klinefelter syndrome is due to post-fertilization mitotic nondisjunction during early fetal development. Karyotyping – The set of chromosomes in a person with Klinefelter syndrome (Doctor Tipser) The extra chromosome is retained because of a nondisjunction event during paternal or maternal meiosis I (gametogenesis). Klinefelter Syndrome is seen in males with an extra X chromosomes. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Most commonly, Klinefelter syndrome occurs due to a process referred to as nondisjunction in the egg or the sperm during meiosis. • 49,XXXXY is 1 in 85,000 to 100,000 male births. Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). L'expression atypique de ce syndrome explique donc le retard fréquent de son diagnostic, qui est souvent fait uniquement dans le cadre d'une recherche de stérilité. Le syndrome de Klinefelter, décrit en 1942, est lié à une anomalie génétique. Qu’est-ce que le syndrome de Klinefelter ? In paternal In 1959, Klinefelter syndrome was found to be caused by a supernumerary X chromosome in a male. Up to two-thirds of cases are undiagnosed due to subtle findings. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. Nondisjunction occurs when homologous chromosomes, in this case the X and Y or two X sex chromosomes, fail to separate, producing a sperm with an X and a Y chromosome or an egg with two X chromosomes. In cases of Klinefelter syndrome with an additional maternal X, nondisjunction in either the first or second meiotic division is most likely to have occurred. sex chromosomes. Le syndrome de Klinefelter ou mâles XXY ou polygonosomie XXY est une maladie génétique touchant exclusivement les garçons. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. 1. Les origines de cette particularité se trouvent lors de la méiose des gamètes des parents du sujet, lorsque les chromosomes sexuels ne se répartissent pas normalement. On a microscopic scale this means that the egg or sperm contain an extra X chromosome. PMID: The patient had female external genitalia, clitoromegaly, and some features of Klinefelter's syndrome, including speech delay and delayed intellectual development. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. 25 Mental retardation is a feature in a small ... Puck TT et al: Studies on chromosomal nondisjunction in man: III. Genetic Changes. Klinefelter's syndrome, XXY males, can occur due to nondisjunction of X chromosomes during prophase of meiosis I in females. Tips for Finding Financial Aid. [Klinefelter syndrome]. Pathophysiology 2) Wikipedia. 2000;(30 Pt 5):355-7. Klinefelter syndrome is one of the leading causes of male infertility. Symptoms. Meiosis is the process by which genetic material is multiplied and then divided to supply a copy of genetic material to an egg or a sperm. Le caryotype 47,XXY (80 % des cas de Klinefelter[4]) est à distinguer des caryotypes 48,XXXY, 48,XXYY et 49,XXXXY et autres mosaïques qui présentent alors d'autres conséquences que celles précitées et qui constituent 20 % des cas. … This greediness is called nondisjunction. Introduction. The effects of having an additional chromosome are abnormalities in the normal development of the body, hypogonadism, and male infertility. [Klinefelter syndrome]. Cette fréquence augmente avec l’âge maternel. Klinefelter syndrome (KS) is caused by a supernumerary X chromosome in males with an estimated prevalence of about 1 in 600 newborns and is one of the most frequent genetic causes of male infertility .Fabry disease is one of more than 40 lysosomal storage diseases and is caused by mutations of the GLA gene located on the X chromosome. Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, Ferlin A, Foresta C, Jannini EA, Maggi M, Lenzi A, Pasquali D, Francavilla S. Klinefelter ItaliaN Group (KING). Il se caractérise par un chromosome X additionnel. 2014 Dec;23(12):1149-52. doi: 10.1016/j.hlc.2014.07.056. Le diagnostic se fait à l'aide du caryotype mais il est beaucoup plus délicat en cas de mosaïque. nondisjunction during meiosis I or II in either parent. Les individus dits « mosaïque » n'ont pas toutes les cellules atteintes par la particularité chromosomique et sont donc pour certains en mesure d'avoir des enfants. Nondisjunction occurs when a pair of chromosomes- for reasons scientifically undiscovered- does not separate during either the first or second division of meiosis. Klinefelter syndrome (47, XXY) Klinefelter syndrome is the most common sex chromosome aneuploidy in humans. Symptoms un développement anormal des organes sexuels (testicules de petite taille, caractères sexuels secondaires peu marqués en particulier une pilosité peu développée, pénis de taille normale) ; une gynécomastie unilatérale ou bilatérale (développement anormal des seins) ; un risque accru de difficultés d’apprentissage du langage et de la lecture, de. Le diagnostic du syndrome de Klinefelter repose sur une analyse des chromosomes à partir d’une prise de sang effectuée dans un laboratoire d’analyses médicales. FAQs About Chromosome Disorders. Normally, males inherit one X chromosome from their mother and one Y chromosome from their father. De même, on peut pratiquer une exérèse des petits testicules chez ceux qui acceptent difficilement cet état, avec une mise en place de prothèses testiculaires. Virtually all men are infertile due to hyalinization and fibrosis of the testes. it is possible for a male and a female to have exactly the same_____ but they would have to differ in_____ autosomes; sex chromosomes. Hello, the extra X chromosome in the Klinefelter's syndrome is caused by meiotic nondisjunction of chromosomes. Le syndrome de Klinefelter ne se manifeste généralement qu’à partir de la puberté, même si les malformations congénitales sont plus fréquentes à la naissance. AMA Citation Klinefelter Syndrome XXY/XYY. Hum Reprod Update. [Article in Japanese] Okuyama T(1), Kosuga M. Author information: (1)Department of Genetics, National Children's Medical Research Center. aneuploidies, including Klinefelter syndrome that results from a nondisjunction event in the father in nearly half of the cases (20, 21). Signs and symptomsSigns and symptoms of Klinefelter syndromevary by age(XXY) … https://patient.info/mens-health/klinefelters-syndrome-leaflet Adolescent acne is rare, and temporal hair recession usually does not occur. 18. The two ways one gets Klinefelter Syndrome. Un autre groupe nommé « mosaïque » trouve ses origines lors de la mitose. However, when the male body consists of 47 chromosomes instead of the usual 46, wherein the extra chromosome is an X sex chromosome, it results into a sex chromosome disorder called Klinefelter Syndrome. Ooreka accompagne vos projets du quotidien. Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes ). L'individu est alors de caractère masculin, mais infertile. The two ways one gets Klinefelter Syndrome. 9. In paternal Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood.Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. meiosis I or II in either parent. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Klinefelter syndrome (KS) is the most common X chromosome abnormality encountered in men with infertility. chromosomes). Gynecomastia - XXXY syndrome - Y chromosome - 49,XXXXY - Harry Klinefelter - X chromosome - Microorchidism - Hypogonadism - Osteoporosis - Azoospermia - Chromosome - Calico cat - Mosaic (genetics) - Karyotype - Follicle-stimulating hormone - Barr body - Nondisjunction - XYY syndrome - Meiosis - Breast cancer - Tortoiseshell cat - Kallmann syndrome - X-inactivation - Pseudoautosomal … L'académie européenne d'andrologie (European academy of andrology) a publié des recommandations sur le syndrome de Klinefelter en 2020[11]. 42 Pubic hair is usually feminine in distribution; facial and body hair are scanty, and few patients shave daily. Klinefelter’s Syndrome Nawras Al Halabi nawras@me.com 2. La plupart des symptômes résulte d’une insuffisance de testostérone et l’un des traitements consiste à administrer un traitement hormonal de testostérone dès la puberté (en comprimés, par patch ou en injection). For example, when the cell divides to create two cells (eggs) each … A 52 year-old male with Klinefelter syndrome presented with chest tightness and rapid atrial fibrillation with hypotension. La mortalité globale est augmentée, essentiellement de causes cardio-vasculaires, neurologiques ou pulmonaires[6]. Aneuploidy is a term that is used to describe the absence or addition of a single chromosome. [Article in Japanese] Okuyama T(1), Kosuga M. Author information: (1)Department of Genetics, National Children's Medical Research Center. L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. Therefore, nondisjunction … Typiquement il existe un tableau biologique d'hypogonadisme hypergonadotropique, avec, chez l'adulte, une concentration normale ou basse de testostérone et un taux élevé de LH et de FSH[5]. Diagnosing Klinefelter SyndromeThe greatest chances to make Klinefelter’sdiagnosing are in following times of life: Before or shortly after birth Early childhood Adolescence Adulthood.For males in which Klinefelter syndrome is suspected, aspecial blood test is recommended to confirm theKlinefelter syndrome diagnosis. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Klinefelter’s syndrome is a non-disjunction chromosomal condition of the sex chromosomes. Klinefelter syndrome (KS) has been associated with both increased morbidity and mortality, with average reduction in lifespan of approximately 2.1 years. In: Bissonnette B, Luginbuehl I, Marciniak B, Dalens BJ. Hello, the extra X chromosome in the Klinefelter's syndrome is caused by meiotic nondisjunction of chromosomes. La dernière modification de cette page a été faite le 11 décembre 2020 à 20:42. Klinefelter’s syndrome is a non-disjunction chromosomal condition in which the male has two or more X chromosomes, resulting in an XXY sex chromosome pairing. Often, symptoms are subtle and subjects do not realize they are affected. Le risque de cancer du sein est majoré[7] ainsi que celui de maladie thrombo-embolique[8], de diabète[9] ou d'ostéoporose[5]. Seuls les garçons peuvent être touchés par la maladie, dont les symptômes sont très variables d’un patient à l’autre. Klinefelter syndrome accounts for 10% to 20% of males attending infertility clinics. ... Nondisjunction will occur when sister chromatids on thesex chromosome, in this case an X and an X, fail toseparate.• An XX egg is produced which, when fertilized with a Ysperm, yields XXY offspring. Le risque pour un couple ayant déjà eu un enfant atteint n’est pas plus élevé que celui des autres couples. De nombreux adultes développent aussi une grande fatigue permanente, des troubles de la vue, du surpoids, des difficultés de maturité psychologique, des douleurs chroniques des membres inférieurs, de l'arthrose, fragilité dentaire, des difficultés de mémorisation, dyslexie, impulsivité sur les actes, des troubles du sommeil (apnée), du psoriasis, une diminution de la libido, des érections de très longues durées. Here's the breakdown. Un article de Wikipédia, l'encyclopédie libre. Syndrome de Klinefelter : quel traitement ? (Klinefelter syndrome may result from nondisjunction in either the male or female, since both parents possess at least one X chromosome.) It represents the most frequent cause of hypogonadism and infertility in men. Sa formule chromosomique s'écrit «47,XXY ». For example, an egg or sperm cell may gain one. La prise en charge vise à prévenir l’apparition de troubles et à limiter l'étendue des symptômes. It is a trisomy, displayed in the picture to the left. Environ un individu sur 500 à 1 000 naissances masculines est porteur de ce syndrome[3]. nondisjunction during meiosis I or II in either parent. Par contre, les enfants porteurs de ce syndrome peuvent présenter des retards dans les premières acquisitions : apprentissage du langage, de la lecture, développement de la mo- tricité. Le symptôme constant chez tous les patients est une stérilité liée à une insuffisance de testostérone. An error of nondisjunction during gametogenesis provides the extra X chromosome in KS men. If you or your son has been diagnosed with Klinefelter syndrome, you might find it useful to find out more about it and get in touch with others affected by it. 19. Klinefelter Syndrome Klinefelter syndrome is a chromosomal aneuploidy characterized by the presence of 1 or more extra X chromosomes in a male karyotype, most commonly leading to karyotype 47,XXY. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Aucun examen complémentaire n’est nécessaire. Possible nondisjunction events leading to Klinefelter’s Syndrome. En cas de gynécomastie importante et invalidante, une chirurgie plastique peut être proposée. Une azoospermie (absence de spermatozoïdes dans l'éjaculat) n'est parfois pas le témoin de l'absence de production de spermatozoïdes et des prélèvements intratesticulaires ont pu être faits[10]. Ce groupe représente à peu près 10 % des cas de syndrome de Klinefelter. The X and Y chromosome are known as sex chromosomes, and their presence or absence determines the gender of the embryo. En cas d’absence totale de spermatozoïdes, le don de sperme ou l’adoption restent des alternatives pour concrétiser un projet parental. One of the eggs from such a meiosis could receive both X chromosomes, and the other would receive no X chromosomes. Les symptômes sont liés à une insuffisance ou à une absence de sécrétion de la testostérone (hormone masculine). The primary features are infertility and small poorly functioning testicles. Fertilizing a normal (X) egg with this sperm produces an XXY offspring (Klinefelter). Klinefelter syndrome can result from nondisjunction during meiosis I or II in either parent. The clinical phenotype of KS was first described in males with tall stature, small testes, gynecomastia, and azoospermia with the genetic etiology of supernumerary X chromosomes identified in 1959. Les effets secondaires de ce traitement (acné, hypertension artérielle) doivent faire l’objet d’une surveillance ou d’une prise en charge. 54 In early life, Klinefelter may be diagnosed in boys with behavioral disorders, abnormally small testes, and long legs (Fig. About eighty percent of individuals with this syndrome have one extra X chromosome resulting in the karyotype XXY. Klinefelter syndrome is typically caused by what is called nondisjunction, more specifically nondisjunction of the sex chromosomes. Sometimes, nondisjunction can result in combinations such as 48, XXXY and 49, XXXXY, where there are 3 and 4 X chromosomes instead of just 2, resulting in more severe and more dangerous variations of Klinefelter's Syndrome. De même, la fratrie d’un garçon atteint n’a pas un risque plus élevé d’avoir un enfant atteint. 7. [ 34] The 47,XXY karyotype of Klinefelter syndrome spontaneously arises when paired X … Klinefeltersyndrome(47,XXY)By Egorov Peter 2. what codes for gender. Tips for the Undiagnosed. Typically, an egg will contain one X and a sperm will contain either an X or Y. Le syndrome de Klinefelter ou 47,XXY est une aneuploïdie qui se caractérise chez l'être humain par un chromosome sexuel X supplémentaire. text Close Copy Link. aneuploidies, including Klinefelter syndrome that results from a nondisjunction event in the father in nearly half of the cases (20, 21). If that doesn't make sense, that's okay. Image courtesy of Essay Homework Help. Klinefelter's Syndrome is caused by nondisjunction during meiosis in one of the parents (making it a chromosomal condition). Klinefelter’s Syndrome 1. Klinefelter Syndrome is a topic covered in the 5-Minute Clinical Consult.. To view the entire topic, please sign in or purchase a subscription.. 5-Minute Clinical Consult (5MCC) app and website powered by Unbound Medicine helps you diagnose and manage 900+ medical conditions. • 48,XXYY and 48,XXXY occur in 1 in 18,000–50,000 male births. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of … Enfin, un suivi par un orthophoniste et un psychomotricien sont indispensables pour limiter les troubles du langage et les troubles moteurs. Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation. There is a delay in the onset of puberty in about half of 47,XXY patients, and reduced penile size in about 20%. PMID: Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone, « A case of human intersexuality having possible XXY sexdetermining mechanism », Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study, Mortality in patients with Klinefelter syndrome in Britain: a cohort study, Review article: epidemiology of male breast cancer. nécessaire]. Un diagnostic prénatal est possible au cours de la grossesse dans deux circonstances : Le syndrome de Klinefelter est du à un chromosome supplémentaire, aucun traitement ne permet donc de guérir définitivement ce syndrome. How to Get Involved in Research. Klinefelter syndrome is typically caused by what is called nondisjunction. 2017;23(3):265–75. How to Find a Disease Specialist. des troubles moteurs (maladresse, incoordination des mouvements, troubles de l’équilibre) ; des troubles de l’humeur (anxiété, timidité, agressivité) ; si les parents ont déjà eu un enfant atteint du syndrome de Klinefelter, même si le risque de récidive est faible ; à l’occasion d’une amniocentèse pratiquée pour un autre motif (recherche d’autres anomalies chromosomiques comme une trisomie). La prise en charge de la stérilité implique le recours à des techniques d’assistance médicale à la procréation. Il en est de même pour les testicules où une prothèse testiculaire peut être indiquée. For example, an egg or the sperm during meiosis II nondisjunction either... De mosaïque condition ) se produit lors de la mère, soit du père 14. Nondisjunction, more specifically nondisjunction of chromosomes phenotypic male of testosterone and is the frequent... 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