3. KARYOTYPING is the process of pairing and ordering all the
chromosomes of the organism. Thus providing a genome-wide
snapshot of an individual’s chromosome.
Clinical CYTOGENETICISTS analyze human KARYOTYPES
to detect gross genetic changes-anomalies involving several
MEGABASES or more of DNA.
KARYOTYPES can reveal changes in chromosome number
such as down syndrome ,structural changes such as
chromosomal deletions , duplications, translocations or
INVERTIONS.
KARYOTYPING are becoming a source of diagnostic
information for specific birth DEFECTS,GENETIC disorders and
cancers.
4. The complete chromosomal set of nucleus of
the cell. The diagrammatic representation of
a KARYOTYPE with all of pairs of
chromosomes arranged in the order of size
called an Ideogram. The preparation and
study of KARYOTYPES is a part of
CYTOGENETICS.
5. A Karyotype is a number and APPERANCE of
chromosomes in the nucleus of a Eukaryotic
cell. The term is also used for the complete
set of chromosomes in the species are in the
individual organisms and for a test that
defects this complement or measures the
number.
6. Chromosomes are composed of chromatin ,a
combination of nuclear DNA and protein. For
KARYOTYPING cells are captured in
metaphase. A metaphase stage in mitosis at
which the chromosomes are aligned along
the cell equator.
8. The karyotype which show large difference
between smaller and large chromosomes in a set.
Have more acrocentric chromosomes.
Have relatively advanced features.
The karyotype which show lesser difference
between smaller and large chromosomes in a set.
Have more metacentric chromosomes.
Have no relatively advanced features.
9. The study of karyotypes is made possible by
staining.
Usually a suitable dye ,such as
GIEMSA, is applied after cells have arrested
during cell division by a solution of colchicine
usually in metaphase or when most
condensed.
In order for GIEMSA to adhere
correctly , all the chromosomal proteins must
be digested and removed.
10. The normal human karyotype contains 22 pairs of
Autosomal chromosomes and one pair of sex
chromosomes.
The KARYOTYPES for female contains
two X chromosomes and are denoted as XX.
The KARYOTYPES for male contains
both X and Y chromosomes and are denoted as
XY.
Any variation from the standard
KARYOTYPE may lead to developmental
abnormalities.
11.
12. Chromosomal abnormalities can be numerical,
as in the presence of extra or missing
chromosomes or structural ,as in derivative
chromosomes such as translocations,
duplication.
Numerical abnormalities are
known as Aneuploidy results in formation of
TRISOMERS , in which three copies of the
chromosomes are present instead of two.
13. Chromosomal abnormalities that leads to disease in
human includes
TUMER SYNDROME results from a single
X chromosomes(45 X ).
KLINEFELTER SYNDROME ,the most
common male chromosomal disease caused by an
extra X chromosomes.
EDWARDS SYNDROME is caused by
TRISOMY ( three copies ) of chromosome 18.
DOWN SYNDROME is a common
chromosomal disease caused by TRISOMY of
chromosome 21.
14. To understand the structure of chromosomes.
To understand various banding
techniques and their applications.
To identify the sex of individuals
through AMINOCENTESIS.