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Try out PMC Labs and tell us what you think. Learn More. Sex chromosome tetrasomy and pentasomy conditions occur in — male births. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype—phenotype relationships and the development of evidence-based treatments. The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important; however, all of these conditions share features of hypergonadotropic hypogonadism and the need for increased awareness, biomedical research and the development of evidence-based treatments.

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Unlike many conditions that have obvious, defined symptoms well-known to physicians and the general population, X and Y chromosome variations often affect people only subtly, with mild and mysterious symptoms that are often dismissed as normal developmental variations or individual quirks. This can delay diagnosis for years, much to the frustration of those who experience them. Being diagnosed with a genetic condition as an adult can be a highly distressing experience.
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