Antshel Kevin M, Kates Wendy R, Roizen Nancy, Fremont Wanda, Shprintzen Robert J
Department of Psychiatry and Behavioral Sciences, SUNY-Upstate Medical University, Syracuse, NY 13210, USA.
Child Neuropsychol. 2005 Feb;11(1):5-19. doi: 10.1080/09297040590911185.
This paper presents a conceptual review of the genetic underpinnings of 22q11.2 Deletion Syndrome. The neuroanatomical, neuropsychological, behavioral, and psychiatric phenotype associated with 22q11.2 Deletion Syndrome is also explored, including variables that are thought to affect symptom expression. The history of the deletion syndrome is described, and future directions for continued research are discussed.
本文对22q11.2缺失综合征的遗传基础进行了概念性综述。同时还探讨了与22q11.2缺失综合征相关的神经解剖学、神经心理学、行为和精神方面的表型，包括被认为会影响症状表现的变量。文中描述了该缺失综合征的历史，并讨论了未来持续研究的方向。
