SOCI 138 Lecture Notes - Lecture 5: Newborn Screening, Online Mendelian Inheritance In Man, Chromosome Abnormality
Document Summary
The rise of medical genetics and the problem of geneticization . Th morgan had confirmed that the chromosomes were the site of heredity. But it was very difficult even to simply determine the number of chromosomes in a normal human cell confirmed repeatedly) There was even consensus for a few decades around 48 (a finding that was. Improvement in techniques for visualizing chromosome led to the 1956 findin g that there are 46 chromosomes in a normal human cell: two sex chromosomes and. It took a series of international conventions in the 1960s/70s to standardize a numbering/banding system so researchers to communicate about chromosomes. A new field ward born: human cytogenetics. The first chromosomal aberrations and the genetic reclassification of disease. Just a few years later, researchers began to report finding people with abnormal chromosome complements. The 1959 discovery of 21st chromosome trisomy as the cause of down"s syndrome showed that genetic abnormalities could cause disease.
