Vago P
Histologie embryologie cytogénétique, UFR médecine, université Clermont-1, 63001 Clermont-Ferrand, France.
Morphologie. 2009 Aug-Sep;93(301):42-50. doi: 10.1016/j.morpho.2009.06.001. Epub 2009 Oct 7.
In 1956, the number of chromosomes in humans is set at 46; in 1959, the link between a disability (mongolism) and a chromosomal anomaly (the Down syndrome) is established: human and medical cytogenetics were born. Since then, progress has been remarkable: the techniques of chromosomal and molecular cytogenetics can reach a resolution of the size of a single gene with a pangenomic scope. Practical applications are constantly expanded. The clinical impact is significant, from the genetic counselling in constitutional to the targeted therapies. Fifty years later, cytogenetics can be defined as the science which aims to detect chromosomal abnormalities, whether constitutional or acquired, using chromosomal or molecular techniques aiming to study the arrangement of genes in chromosomes, to quantify the number of gene copy and to look for the presence of gene fusion.
1956年，人类染色体数目确定为46条；1959年，一种残疾（先天愚型）与一种染色体异常（唐氏综合征）之间的联系被确立：人类和医学细胞遗传学诞生了。从那时起，进展显著：染色体和分子细胞遗传学技术能够在全基因组范围内达到单个基因大小的分辨率。实际应用不断扩展。临床影响重大，从先天性疾病的遗传咨询到靶向治疗。五十年后，细胞遗传学可被定义为一门旨在利用染色体或分子技术检测染色体异常（无论是先天性还是后天获得性）的科学，这些技术旨在研究基因在染色体中的排列、量化基因拷贝数并寻找基因融合的存在。
