Suppr超能文献

多种X和Y染色体疾病中的社会功能:XXY、XYY、XXYY、XXXY。

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

作者信息

Visootsak Jeannie, Graham John M

机构信息

Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.

出版信息

Dev Disabil Res Rev. 2009;15(4):328-32. doi: 10.1002/ddrr.76.

Abstract

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.

摘要

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。

相似文献

9
Chromosomal variants in klinefelter syndrome.克氏综合征中的染色体变异。
Sex Dev. 2011;5(3):109-23. doi: 10.1159/000327324. Epub 2011 Apr 29.
10
Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome.性染色体与大脑:XYY 综合征的神经解剖学研究。
Dev Med Child Neurol. 2012 Dec;54(12):1149-56. doi: 10.1111/j.1469-8749.2012.04418.x. Epub 2012 Oct 12.

引用本文的文献

本文引用的文献

1
A new look at XXYY syndrome: medical and psychological features.XXYY综合征新视角:医学与心理特征
Am J Med Genet A. 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366.
3
Is the prevalence of Klinefelter syndrome increasing?克兰费尔特综合征的患病率在上升吗?
Eur J Hum Genet. 2008 Feb;16(2):163-70. doi: 10.1038/sj.ejhg.5201956. Epub 2007 Nov 14.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验