Crotwell Patricia L, Hoyme H Eugene
Sanford Clinic USD Genetics Laboratory, Sioux Falls, SD, USA.
Curr Probl Pediatr Adolesc Health Care. 2012 Mar;42(3):47-73. doi: 10.1016/j.cppeds.2011.10.004.
Whole-genome genetic diagnostics has changed the clinical landscape of pediatric and adolescent medicine. In this article, we review the history of clinical cytogenetics as the field has progressed from studying chromosomes prepared from cells squashed between 2 slides to the high-resolution, whole-genome technology in use today, which has allowed for the identification of numerous previously unrecognized microdeletion and microduplication syndromes. Types of arrays and the data they collect are addressed, as are the types of results that array comparative genomic hybridization studies may generate. Throughout the review, we present case stories to illustrate the familiar (Down syndrome) and the new (a never-before reported microdeletion on the long arm of chromosome 12).
全基因组遗传诊断已经改变了儿科和青少年医学的临床格局。在本文中，我们回顾了临床细胞遗传学的历史，该领域已从研究夹在两张载玻片之间的细胞制备的染色体发展到如今使用的高分辨率全基因组技术，这使得人们能够识别出许多以前未被认识的微缺失和微重复综合征。文中讨论了阵列的类型及其收集的数据，以及阵列比较基因组杂交研究可能产生的结果类型。在整个综述过程中，我们通过病例故事来说明大家熟悉的（唐氏综合征）和新发现的（12号染色体长臂上一个以前从未报道过的微缺失）情况。
