Hutaff-Lee Christa, Cordeiro Lisa, Tartaglia Nicole
Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO, USA.
Handb Clin Neurol. 2013;111:273-9. doi: 10.1016/B978-0-444-52891-9.00030-0.
This chapter describes the physical characteristics, medical complications, and cognitive and psychological profiles that are associated with chromosomal aneuploidy conditions, a group of conditions in which individuals are born with one or more additional chromosome. Overall, chromosomal aneuploidy conditions occur in approximately 1 in 250 children. Information regarding autosomal disorders including trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), and trisomy 18 (Edward syndrome) are presented. Sex chromosome aneuploidy conditions such as Klinefelter syndrome (47,XXY), XYY, trisomy X, and Turner syndrome (45,X), in addition to less frequently occurring tetrasomy and pentasomy conditions are also covered. Treatment recommendations and suggestions for future research directions are discussed.
本章描述了与染色体非整倍体疾病相关的身体特征、医学并发症以及认知和心理状况，染色体非整倍体疾病是指个体出生时带有一条或多条额外染色体的一组疾病。总体而言，染色体非整倍体疾病在每250名儿童中约有1例发生。文中介绍了包括21三体综合征（唐氏综合征）、13三体综合征（帕陶综合征）和18三体综合征（爱德华兹综合征）在内的常染色体疾病信息。除了较少见的四体和五体状况外，还涵盖了性染色体非整倍体疾病，如克兰费尔特综合征（47,XXY）、XYY、三体X以及特纳综合征（45,X）。讨论了治疗建议以及未来研究方向的建议。
