CHROMOSOME ABNORMALITY AND BEHAVIORAL VARIATION

本研究的目的是将细胞遗传学的新领域 和人类行为遗传学来解决人类正常发育中的问题， 精神病理学 我们正在调查这种关系的性质， 可能存在于男性的性染色体非整倍体之间（即，XXY， XYY）和随后的人格发展。 有这些染色体的婴儿 病变-和婴儿作为对照-通过染色体定位 筛查男性新生儿。 这些婴儿和儿童被跟踪 在一项长期的发展研究中， 可能与染色体有关的风格或发育滞后 变化. 通过半结构化的父母访谈获得的数据 （逐字记录）和直接观察儿童，减少到16 操作定义的行为类别，代表孩子的 发展和功能的最相关方面的心理社会 适应 根据系统抽样得出的初步结论 方法进行独立测试的心理测试，发展 评估和正式实验。 相当大的争议， 围绕着可能存在的关系的问题， 某些性染色体变异和人格发展。 这 争论的起因是， 这种关系是通过调查一组个体而获得的 他们表现出了一种特殊的人格偏差， 其中一个特定的染色体非整倍性的发病率增加。 的 携带这种变异的个体的自然史仍然存在 大部分未知。是否应该对受影响的患者进行长期纵向研究 个体显示出与变异相关的任何发育风险， 这些知识可以帮助这些人克服 发展滞后，充分发挥其发展潜力。

The research aims of this study are to relate the new areas of cytogenetics and human behavior genetics to problems in normal human development and psychopathology. We are investigating the nature of the relationship which might exist between the sex chromosome aneuploides in males (i.e., XXY, XYY) and subsequent personality development. Infants with these chromosome lesions-and infants serving as controls-were located through a chromosome screening of male neonates. These infants and children are being followed in a long-term developmental study with the aim of identifying reactive styles or developmental lags that might be related to the chromosome variations. The data, obtained through semistructured parental interviews (recorded verbatim) and direct observations of the child, are reduced to 16 operationally defined categories of behavior that represent the child's development and functioning in the most relevant aspects of psychosocial adaptation. Preliminary conclusions based on the systematic sampling method are tested independently by psychological testing, developmental assessments and formal experiments. Considerable controversy has surrounded the issue of the possible relationship which might exist between certain sex chromosome variations and personality development. This controversy has resulted from the fact that much of the evidence suggesting such a relationship has been obtained by surveying groups of individuals who demonstrated a particular personality deviation and finding an increased incidence of a specific chromosomal aneuploidy among them. The natural history of unselected individuals who carry such variations remains largely unknown. Should long-term longitudinal studies of affected individuals reveal any developmental risk associated with the variation, this knowledge can be directed to helping these individuals overcome developmental lags and realize their full developmental potential.