A BRIEF HISTORY OF HUMAN CYTOGENETICS | BIONATURE

Although various researchers had investigated human chromosomes prior to 1956, it is now widely considered that Tjio and Levan's paper, which reported the proper chromosomal number as 46 after evaluating tissue culture preparations, marked the start of the modern science of human cytogenetics. Soon after, aneuploidy was discovered in several congenital malformation syndromes that had long been suspected to have a genetic (chromosomal) defect, such as Down (trisomy 21), Turner (45, X), and Klinefelter (47, XXY); and some others were newly identified, such as Patau (trisomy 13), Edwards (trisomy 18), cridu-chat (5p-), Wolf Hirschhorn (47, XXY) (4p-). A little, minute [later named Phl (Philadelphia) — chromosome was also discovered in a disease called chronic myeloid leukaemia. Biomedical scientists were so impressed by these quick advancements that several universities throughout the world established human genetics departments, divisions, sections, or laboratories. Basic scientists continued to work on human tissue-derived cell lines, making substantial contributions and laying the groundwork for future expansion. Clinicians began to apply advances in this newly established sub-specialty to clinical issues, which complemented the urge to collect material for further research. Other chromosomal anomalies, such as translocations, isochromosomes, ring chromosomes, and inversions (para- and peri-), were thus described, as were translocations, isochromosomes, ring chromosomes, and inversions (para- and peri-), which had long been known to cytogeneticists who had studied other organisms. We learned about the role of aneuploidy in pregnancy loss and birth abnormalities in general, as well as some estimates of its prevalence and incidence in the general population.

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