Visootsak Jeannie, Graham John M
Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.
Dev Disabil Res Rev. 2009;15(4):328-32. doi: 10.1002/ddrr.76.
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.
克兰费尔特综合征（47,XXY）最初是根据其内分泌和身体特征来描述的；然而，随后的研究揭示了其在语言技能和社会功能方面存在特定障碍。已知患有性染色体非整倍体的男性在发育方面存在差异，大多数表现为表达性语言缺陷。由于语言发育迟缓，他们出现基于语言的学习障碍和社会情感问题的可能性增加，这些问题可能会持续到成年期。对患有47,XXY的男性的研究揭示了独特的行为和社会特征，可能易患自闭症特质。拥有不止一条额外性染色体的男性（如48,XXYY和48,XXXY）以及额外一条Y染色体的男性（如47,XYY）的患病率较低，但了解他们的社会功能很重要，因为这有助于深入了解治疗的意义。
