Karyotype

KARYOTYP
Chromosomes
Rod shaped structures found in the center of the nucleus of every cell in
the body (except RBC).
Each sperm and each ovum contains 23 chromosomes.
The chromosomes contain the DNA and genes.
The fertilized egg (zygote) and all the body cells that develop from it
(except the sperm cells and the ova) contain 46 chromosomes.
22 of the pairs are called autosomes and are numbered from largest to
smallest.
The autosomes are not involved in determining sex.
The 23rd pair are the sex chromosomes:
XX in females
XY in males
(1)Chromatid one of the two identical
parts of the chromosome afterS phase.
(2)Centromere the point where the two
chromatids touch, and where the
microtubules attach.
(3) Short arm.
(4) Long arm.
INTRODUCTION
A karyotype test is basically a test that analyzes
our chromosomes.
It tells you how many chromosomes a person has
and looks at the structure of each chromosome
individually.
A karyotype can be performed on any tissue but
most often it is done from a blood sample, a
sample of amniotic fluid or a piece of placenta
obtained through chorionic villi sampling.
Karyotyping is a complex process that involves
growing the cells, obtaining the chromosomes,
staining the chromosomes, analyzing the
chromosomes and reporting the results.
DEFINITION
A laboratory test used to study an
individual's chromosome make-up.

Chromosomes are separated from cells,
stained, and arranged in order from largest to
smallest so that their number and structure
can be studied under a microscope.
History of karyotype studies
Chromosomes were first observed in plant cells by Karl
Wilhelm von Ngeli 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, von

Waldeyer in 1888.
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 number of
humans was 46 or 48 latter changed his opinion.
Culture cells WBC
Pre-treating cells in a hypotonic solution, which swells them
and spreads the chromosomes

Arresting mitosis in metaphase by a solution of colchicine
Squashing the preparation on the slide forcing the
chromosomes into a single plane
Dying by Giemsa
Cutting up a photomicrograph and arranging the result into
an indisputable karyogram.
Types of banding
G-banding: yields a series of lightly and darkly stained bands - the dark
regions tend to be heterochromatic, late-replicating and AT rich. The light r
egions tend to be euchromatic, early- replicating and GC rich.
R-banding : reverse of G-banding , dark regions are euchromatic (GC) and light
heterocromatin (AT).
C-banding: constitutive heterochromatin.
Q-banding : Fluorescentpattern obtained using quinacrine for staining same as

Gimsa.
T-banding: visualizetelomeres.
TYPES OF KARYOTYPING
The types of karyotyping are:
Multicolor Karyotyping (Spectral and Color Changing Karyotyping) :
Multicolor karyotyping identifies all chromosomes in a metaphase
preparation based on their color differences.
Fluorescence in Situ Hybridization (FISH) : Uses fluoresce dye
to colour genes useful for gene mapping and for identifying
chromosomal
abnormalities
Comparative Genomic Hybridization (CGH). : analysis of regional
changes in the DNA content of tumor cells.
Chromosome abnormalities
Turner syndrome: Results from a single X chromosome (45, X or
45, X0).
Klinefelter syndrome : The most common male chromosomal
disease, otherwise known as 47, XXY is caused by an
extraXchromosome.
Edwards syndrome :is caused bytrisomy(three copies) of
chromosome 18.
Down syndrome, a common chromosomal disease, is caused by
trisomy of chromosome 21.
Patau syndrome : is caused by trisomy of chromosome 13.
Observations
Six different characteristics of karyotypes are usually observed and
compared:
Differences in absolute sizes of chromosomes.
Differences in the position ofcentromeres. This is brought about
bytranslocations.
Differences in relative size of chromosomes can only be caused by
segmental interchange of unequal lengths.
Differences in basic number of chromosomes.
Differences in number and position of satellites,
Differences in degree and distribution ofheterochromaticregions.
Variation is often found:
Between the sexes

Between thegerm-lineandsoma(betweengametesand the rest of
the body)
Between members of a population (chromosome polymorphism)
Geographical variationbetweenraces
Mosaicsor otherwise abnormal individuals
SPECTRAL KARYOTYPING
Prenatal diagnosis: amniocentesis
sampling cells from amniotic

fluid
usually done ~ 15-18
weeks
Thank for your attention.
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KARYOTYP

A laboratory test used to study an

individual's chromosome make-up.

History of karyotype studies

Chromosomes were first observed in plant cells by Karl

Wilhelm von Ngeli in 1842.

Their behavior in animal (salamander) cells was described by

The name was coined by another German anatomist, von

Investigation into the human karyotype took many years to

In 1912, Hans von Winiwarter reported 47 chromosomes in

Culture cells WBC

Pre-treating cells in a hypotonic solution, which swells them

and spreads the chromosomes

chromosomes into a single plane

Cutting up a photomicrograph and arranging the result into

C-banding: constitutive heterochromatin.

Q-banding : Fluorescentpattern obtained using quinacrine for staining same as

Variation is often found:

Between the sexes

Prenatal diagnosis: amniocentesis

sampling cells from amniotic

Thank for your attention.

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