Jackson-Cook Colleen
Department of Pathology, Virginia Commonwealth University, Richmond, VA 23298, USA.
Clin Lab Med. 2011 Dec;31(4):481-511, vii. doi: 10.1016/j.cll.2011.08.002.
Chromosomal imbalances can result from numerical or structural anomalies. Numerical chromosomal abnormalities are often referred to as aneuploid conditions. This article focuses on the occurrence of constitutional and acquired autosomal aneuploidy in humans. Topics covered include frequency, mosaicism, phenotypic findings, and etiology. The article concludes with a consideration of anticipated advances that might allow for the development of screening tests and/or lead to improvements in our understanding and management of the role that aneuploidy plays in the aging process and acquisition of age-related and constitutional conditions.
染色体失衡可能由数量或结构异常引起。染色体数量异常通常被称为非整倍体状况。本文重点关注人类先天性和后天性常染色体非整倍体的发生情况。涵盖的主题包括频率、嵌合体、表型表现和病因。文章最后考虑了预期的进展，这些进展可能有助于开发筛查测试和/或增进我们对非整倍体在衰老过程以及与年龄相关和先天性疾病发生中所起作用的理解和管理。
