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). This happens because of the process of non-disjunction. Introduction. Un autre groupe nommé « mosaïque » trouve ses origines lors de la mitose. 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. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Symptoms. Pathophysiology 2) Wikipedia. Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation. 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. Le syndrome de Klinefelter ou 47,XXY est une aneuploïdie qui se caractérise chez l'homme par un chromosome sexuel X supplémentaire. Klinefelter Syndrome is seen in males with an extra X chromosomes. Klinefelter syndrome is a condition related to the X chromosome and Y chromosome (the sex. 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. The two ways one gets Klinefelter Syndrome. Therefore, nondisjunction … Most commonly, Klinefelter syndrome occurs due to a process referred to as nondisjunction in the egg or the sperm during meiosis. For example, when the cell divides to create two cells (eggs) each … In 1959, Klinefelter syndrome was found to be caused by a supernumerary X chromosome in a male. 2017;23(3):265–75. Approximately 10 percent of men with Klinefelter syndrome have mosaicism (47,XXY/46XY) with 47,XXY present in some tissues and the normal karyotype in other tissues . Klinefelter syndrome accounts for 10% to 20% of males attending infertility clinics. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. For example, an egg or sperm cell may gain one. 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. On a microscopic scale this means that the egg or sperm contain an extra X chromosome. Müller U(1), Schneider NR, Marks JF, Kupke KG, Wilson GN. (XXY) 8. Every male cell consists of 44 autosomes and XY sex chromosome. Ryoikibetsu Shokogun Shirizu. Le traitement du syndrome de Klinefelter est à la fois préventif (limiter l’apparition de certains troubles par une prise en charge adaptée) et symptomatique (soulagement des symptômes). Au lieu d’avoir une paire de chromosomes XY, les garçons atteints ont trois chromosomes sexuels, deux X et un Y. Cette anomalie des chromosomes sexuels est la plus fréquente avec 1 cas pour 600 à 1 000 naissances de garçons. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. text Close Copy Link. Fertilizing a normal (X) egg with this sperm produces an XXY offspring (Klinefelter). 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. The X and Y chromosome are known as sex chromosomes, and their presence or absence determines the gender of the embryo. Seuls les garçons peuvent être touchés par la maladie, dont les symptômes sont très variables d’un patient à l’autre. Les symptômes sont liés à une insuffisance ou à une absence de sécrétion de la testostérone (hormone masculine). About eighty percent of individuals with this syndrome have one extra X chromosome resulting in the karyotype XXY. 9. Ryoikibetsu Shokogun Shirizu. [ 34] The 47,XXY karyotype of Klinefelter syndrome spontaneously arises when paired X … L’accident se produit lors de la formation des gamètes ou de la division de l’œuf. Enfin, un suivi par un orthophoniste et un psychomotricien sont indispensables pour limiter les troubles du langage et les troubles moteurs. 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; Share this content: Share this content: × Copy Link. 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