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XXYY syndrome occurs in approximately ,—, males. 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. We report on the results of a cross-sectional, multicenter study of 95 males age 1—55 with XXYY syndrome mean age The mean age of diagnosis was 7.
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Either your web browser doesn't support Javascript or it is currently turned off. In the latter case, please turn on Javascript support in your web browser and reload this page. Review Free to read. 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.
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48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.

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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. In contrast, 47,XXY Klinefelter syndrome is the most common chromosomal abnormality in humans, with newborn screening studies showing an incidence rate of approximately oen in males 5 , 6.
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