Internship

Genetics and Pre-Natal Genetic

Diagnosis(PGD) Laborotary
Genetics Department,
Jaslok Hospital and Research Centre
Cytogenetics is the study of
chromosomal abnormalities
What I learnt
- FISH ( Fluorescent In situ
Hybridisation)
- Karyotyping
- Genetic counselling
- Tissue Culture
- Cytogenetic Disorders and
Identificaion
Tissue culture
Principles of It is the first step in the preparation of slide for either
karyotyping of FISH of products of conception, bone marrow
Tissue or amniotic fluid.

culture Th field being used to prepare the culture must be cleaned

with 70% ethyl alcohol to ensure no contamination of the
sample

The process of preparation of the culture, must happen under

laminar flow of sterile air.

IF THE SAMPLE IS CONTAMINATED, THE FLUID MEDIUM,

WILL APPEAR WHITISH.

THIS CANNOT BE USED AS IT CONTAINS THE

BACTERIUM, AND WILL GIVE INCORRECT RESULTS
PREPARATION OF SLIDES FOR KARYOTYPING
Dropping Washing

The fixative is dropped onto the slide from a The slides are washed in solutions for 2-3 minutes,
height, to spread the chromosomes, so they to remove any residue
can be clearly viewed under a microscope
Karyotyping and
identification of
chromosomes

Aligning Chromosomes according to size

and banding pattern
To Karyotype, chromosomes are arranged according to a
few different factors, of those the most important are : size
, position of the centromere and banding patterns.
1.Chromosomes are aligned according to position of the
centromere
2.There are 3 possible alignment
3.1. Acrocentric (D and G)
4.Metacentric
5.Sub metacentric
●
6.After identifying the positon of the centromere,
chromosomes can be furthur classified into groups on the
basis of size. Eg. Group D is acrocentric large, and G is
acrocentric small
●
7.Lastly, they are classified on the basis of banding
patterns