Klinefelter se sindroom klinefelters syndrom Klinefelter syndrome Klinefelters syndrome 48,XXXY syndrome http://purl.bioontology.org/ontology/MEDDRA/10048228 http://purl.bioontology.org/ontology/SNOMEDCT/275263003 https://en.wikipedia.org/wiki/XXXY_syndrome https://www.wikidata.org/wiki/Q8042637 48, XXXY syndrome A genetic condition characterized by a sex chromosome aneuploidy, where males have two extra X chromosomes. Males typically have only two sex chromosomes, an X and a Y. The presence of one Y chromosome with a functioning SRY gene causes the expression of genes that determine maleness. Because of this, XXXY syndrome only affects males. The additional two X chromosomes in males with XXXY syndrome causes them to have 48 chromosomes, instead of the typical 46. XXXY syndrome is therefore often referred to as 48,XXXY. There is a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, taurodontism, and infertility. This syndrome is usually inherited via a new mutation in one of the parents’ gametes, as those affected by it are usually infertile. It is estimated that XXXY affects one in every 50,000 male births. Klinefelter syndrome, XXXY Klinefelter's syndrome, XXXY XXXY syndrome supra-Klinefelter syndrome 48,XXXY