Changes in the number or structure of chromosomes in new cells may lead to serious problems.

For
example, in humans, one type of leukemia and some other cancers are caused by defective
chromosomes made up of joined pieces of broken chromosomes.

It is also crucial that reproductive cells, such as eggs and sperm, contain the right number of
chromosomes and that those chromosomes have the correct structure. If not, the resulting offspring may
fail to develop properly. For example, people with Down syndrome have three copies of chromosome 21,
instead of the two copies found in other people.

History of discovery[edit]

Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902.

The German scientists Schleiden,[5] Virchow and Bütschli were among the first scientists who recognized the
structures now familiar as chromosomes.[14]
In a series of experiments beginning in the mid-1880s, Theodor Boveri gave definitive contributions to elucidating that
chromosomes are the vectors of heredity, with two notions that became known as ‘chromosome continuity’ and
‘chromosome individuality’.[15]
Wilhelm Roux suggested that each chromosome carries a different genetic configuration, and Boveri was able to test
and confirm this hypothesis. Aided by the rediscovery at the start of the 1900s of Gregor Mendel's earlier work,
Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes.
Boveri influenced two generations of American cytologists: Edmund Beecher Wilson, Nettie Stevens, Walter
Sutton and Theophilus Painter were all influenced by Boveri (Wilson, Stevens, and Painter actually worked with him).
[16]

In his famous textbook The Cell in Development and Heredity, Wilson linked together the independent work of Boveri
and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri–Sutton chromosome
theory (the names are sometimes reversed).[17] Ernst Mayr remarks that the theory was hotly contested by some
 famous geneticists: William Bateson, Wilhelm Johannsen, Richard Goldschmidt and T.H. Morgan, all of a rather
dogmatic turn of mind. Eventually, complete proof came from chromosome maps in Morgan's own lab.[18]
The number of human chromosomes was published in 1923 by Theophilus Painter. By inspection through the
microscope, he counted 24 pairs, which would mean 48 chromosomes. His error was copied by others and it was not
until 1956 that the true number, 46, was determined by Indonesia-born cytogeneticist Joe Hin Tjio.[19]

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