Christoph N. Berger,Ting‐Ting Huang,Charles J. Epstein
出处
期刊:Birkhäuser Boston eBooks [Birkhäuser Boston] 日期:1992-01-01卷期号:: 1-23
标识
DOI:10.1007/978-1-4899-6732-9_1
摘要
Trisomy 21 is one of the most frequent chomosome abnormalities in man. One out of 700 to 1000 newborn babies has this chromosomal imbalance, which arises due to meiotic nondisjunction of chromosome 21. This leads to three copies of chromosome 21 (trisomy 21, Ts21), the consequence of which is the development of characteristic features associated with Down syndrome (DS). Frequently seen in Down syndrome are dysmorphic features (facial, hands), congenital anomalies of the heart, immunodeficiency and moderate mental retardation. Furthermore, individuals with DS develop the pathological changes of Alzheimer’s disease, including amyloid plaques and neurofibrillary tangles (Wisniewski et al., 1985; Epstein et al., 1987a). These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.