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Although the more complex chromosome aneuploidies 48, XXYY, 48, XXXY, and 49, XXXXY are often compared with 47, XXY (Klinefelter syndrome) because of shared features including tall stature and hypergonadotropic hypogonadism, there is a wider spectrum of physical and cognitive abilities that have recently been delineated. The phenotypic presentation of the boys with more severe aneuploidy shares some characteristics with 47, XXY, but there are also other unique and distinctive features. Previously unappreciated intact nonverbal skills have been demonstrated in association with severe developmental dyspraxia. MRI findings of white matter hyperintensities may underlie cognitive deficits and deserve further study. This report discusses what is known about clinical variability in the XY syndromes collectively evaluated through careful multidisciplinary clinical evaluation including the clinical and neurobehavioral aspects of these conditions. Variability in clinical and cognitive functioning may reflect skewed X inactivation, mosaicism, or epigenetic factors that warrant further investigation. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.31352","type":"journal-article","created":{"date-parts":[[2013,1,19]],"date-time":"2013-01-19T04:34:29Z","timestamp":1358570069000},"page":"35-43","source":"Crossref","is-referenced-by-count":32,"title":["Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations"],"prefix":"10.1002","volume":"163","author":[{"given":"Andrea","family":"Gropman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole A.","family":"Samango\u2010Sprouse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,1,18]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1494"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-1954"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.psyneuen.2009.09.009"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.007"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1746-1561.1985.tb04089.x"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02216062"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20015"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30163"},{"key":"e_1_2_11_10_1","first-page":"216","article-title":"48,XXYY syndrome in a boy with essential tremor. 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