Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.

Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.
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DOI:
10.1002/ddrr.76
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发表时间:
2009
影响因子:
--
通讯作者:
Graham, John M., Jr.
Graham, John M., Jr.
中科院分区:
其他
文献类型:
--
作者:
Visootsak, Jeannie;Graham, John M., Jr.

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Klinefelter综合征(47,XXY)最初是在其内分泌和身体特征的背景下描述的;然而,随后的研究揭示了语言技能和社会功能的特定障碍。性染色体非整倍性的男性在其发育过程中具有变异性,大多数表现为表达性语言缺陷。由于语言发育迟缓,他们更有可能出现语言学习障碍和社交情感问题,这些问题可能会持续到成年。对47,XXY男性的研究揭示了独特的行为和社会特征,可能易受自闭症特征的影响。具有一个以上额外性染色体的男性的患病率(例如,48,XXYY和48,XXXY)和另外的Y(例如,47,XYY)不太常见,但重要的是要了解他们的社会功能,因为它提供了深入了解治疗的影响。
Klinefelter syndrome (47,XXY) was initially described in the context of its endocrinologic and physical features; however, subsequent studies have revealed specific impairments in verbal skills and social functioning. Males with sex chromosomal aneuploidies are known to have variability in their developmental profile with the majority presenting with expressive language deficits. As a consequence of language delays, they have an increased likelihood of language-based learning disabilities and social-emotional problems that may persist through adulthood. Studies on males with 47,XXY have revealed unique behavioral and social profiles with possible vulnerability to autistic traits. The prevalence of males with more than one extra sex chromosome (e.g., 48,XXYY and 48,XXXY) and an additional Y (e.g., 47,XYY) is less common, but it is important to understand their social functioning as it provides insight into treatment implications.
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