A Karyotype

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A karyotype is a preparation of the complete set of metaphase

chromosomes in the cells of a species or in an individual organism,


sorted by length, centromere location and other features and for a
test that detects this complement or counts the number of
chromosomes. Karyotyping is the process by which a karyotype is
prepared from photographs of chromosomes, in order to determine
the chromosome, complement of an individual, including the
number of chromosomes and any abnormalities.
Karyotypes describe the chromosome count of an organism and
what these chromosomes look like under a light microscope.
Attention is paid to their length, the position of the centromeres,
banding pattern, any differences between the sex chromosomes, and
any other physical characteristics. The preparation and study of
karyotypes is part of cytogenetics.
The study of whole sets of chromosomes is sometimes known as
karyology. The chromosomes are depicted (by rearranging a
photomicrograph) in a standard format known as a karyogram or
idiogram: in pairs, ordered by size and position of centromere for
chromosomes of the same size.
The basic number of chromosomes in the somatic cells of an
individual or a species is called the somatic number and is
designated 2n. In the germ-line (the sex cells) the chromosome
number is n (humans: n = 23). Thus, in humans 2n = 46.
So, in normal diploid organisms, autosomal chromosomes are
present in two copies. There may, or may not, be sex chromosomes.
Polyploid cells have multiple copies of chromosomes and haploid
cells have single copies.
Karyotypes can be used for many purposes; such as to study
chromosomal aberrations, cellular function, taxonomic relationships,
medicine and to gather information about past evolutionary events
(karyosystematics).
Chromosomes were first observed in plant cells by Carl Wilhelm
von Nägeli in 1842. Their behavior in animal (salamander) cells was
described by Walther Flemming, the discoverer of mitosis, in 1882.
The name was coined by another German anatomist, Heinrich von
Waldeyer in 1888.
The next stage took place after the development of genetics in the
early 20th century, when it was appreciated that chromosomes (that
can be observed by karyotype) were the carrier of genes. Lev
Delaunay in 1922 seems to have been the first person to define the
karyotype as the phenotypic appearance of the somatic
chromosomes, in contrast to their genic contents. The subsequent
history of the concept can be followed in the works of C. D.
Darlington and Michael JD White.
Investigation into the human karyotype took many years to settle the
most basic question: how many chromosomes does a normal diploid
human cell contain? In 1912, Hans von Winiwarter reported 47
chromosomes in spermatogonia and 48 in oogonia, concluding an
XX/XO sex determination mechanism. Painter in 1922 was not
certain whether the diploid of humans was 46 or 48, at first favoring
46, but revised his opinion from 46 to 48, and he correctly insisted
on humans having an XX/XY system. Considering the techniques of
the time, these results were remarkable.

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