South SEED-LPDH College
CYTOGENETICS
1st Semester; A.Y. 2016-2017
Introduction to Cytogenetics
Definition of Terms:
Cytogenetics
Cytology
Chromosomes
Karyotyping
Karyotype
Definition of Terms
Cytology is a branch of life science that deals with the
study of cells in terms of structure, function and
chemistry.
Genetics is a branch of life science that is concerned with
genes, heredity and variation in living organisms
Cytogenetics is a branch of genetics that is concerned
with the study of the structure and function of the cell,
especially the chromosomes.
It can also be defined as the study of chromosomes and
chromosomal abnormalities.
Definition of Terms
Chromosomes:
composed of protein and DNA, are distinct
dense bodies found in the nucleus of cells.
Genetic information is contained in the DNA of
chromosomes in the form of linear sequences
of bases (A,T,C,G).3.2 trillion
Types of Chromosomes
Metacentric Chromosomes
Metacentric chromosomes have the centromere in the center, such that both
sections are of equal length. Human chromosome 1 and 3 are metacentric.
Submetacentric Chromosomes
Submetacentric chromosomes have the centromere slightly offset from the
center leading to a slight asymmetry in the length of the two sections. Human
chromosomes 4 through 12 are submetacentric.
Acrocentric Chromosomes
Acrocentric chromosomes have a centromere which is severely offset from the
center leading to one very long and one very short section. Human
chromosomes 13,15, 21, and 22 are acrocentric.
Telocentric Chromosomes
Telocentric chromosomes have the centromere at the very end of the
chromosome. Humans do not possess telocentric chromosomes but they are
found in other species such as mice.
Autosomal vs. Sex Chromosomes
Human Chromosomes: consists of 46 chromosomes
in each body cell.
Sex Chromosomes
1 pair
Chromosomes that is used for the determination of
sex/gender
Autosomal Chromosomes
22 pairs
Chromosomes that is not used for sex/gender determination
Definition of Terms
Karyotyping
refers to analysis of chromosomes which have been
banded to produce specific patterns
is the process of pairing and ordering all the
chromosomes of an organism, thus providing a
genome-wide snapshot of an individual's
chromosomes.
Definition of Terms
Karyotype
Refers to the number and appearance of
chromosomes in the nucleus of a eukaryotic cell.
The term is also used for the complete set
chromosomes in a species, or an individual organism.
The normal human karyotype contains 22 pairs of
autosomal chromosomes and 1 pair of sex
chromosomes.
Karyotype
History of Cytogenetics
Walther Flemming
an Austrian cytologist in which the beginning of cytogenetics
was attributed with (1882).
also referred to the stainable portion of the nucleus as
“Chromatin”
Von Waldeyer
Introduced the word “Chromosome” from the Greek word of
colored body (1888)
Gregor Mendel
Mendelian inheritance discovered in 1900
History of Cytogenetics
Walter Sutton
combined the disciplines of cytology and genetics when he referred
to the study of chromosomes
His theory lead to the application of Mendelian laws of inheritance
to the chromosomes at the cellular level.
Late 19th and 20th century
Study of cytogenetics continued and several reports appeared
regarding number of chromosomes
1912, von Winiwarter (men = 47, women = 48)
1923, Painter (human diploid chromosome = 48), he also proposed
the X and Y sex chromosome mechanism in man
1924, Levitsky formulated the term karyotype to refer to the order
arrangement of chromosomes.
History of Cytogenetics
Tjio and Levan
worked on human embryonic lung fibroblast cultures and
reported that the human diploid chromosome number appeared
to be 46, not 48 as previously reported (1955)
Jerome Lejeune
Studied the chromosome of fibroblast cultures of patients with
Down syndrome and found out an extra chromosome in each of
these cells. (1959)
The trisomy was reported to involve one of the smallest pairs
of chromosomes and eventually referred to as trisomy 21.
History of Cytogenetics
Other discoveries
1960 Patau et al. reported trisomy 13 (Patau’s
syndrome)
1960 Edwards et al. reported trisomy 18 (Edward’s
syndrome)
1960 Nowell and Hungerford reported the presence of
Philadelphia chromosome in patients with CML.
1964 Lejeune et al. reported the deletion of the short
arm of chromosome 5 in patients with Cri du Chat
syndrome.
Prenatal Cytogenetic Diagnosis
Chorionic villi sampling
Amniocentesis
Percutaneous Umbilical Blood Sampling
Karyotype analysis
Prenatal FISH
Chorionic villi sampling
a test made in early pregnancy to detect congenital
abnormalities in the fetus. A tiny tissue sample is taken
from the villi of the chorion, which forms the fetal part of
the placenta.
Amniocentesis
(also referred to as amniotic fluid test or AFT) is a
medical procedure used in prenatal of chromosomal
abnormalities and fetal infections, and also used for sex
determination in which a small amount of amniotic
fluid, which contains fetal tissues, is sampled from
the amniotic sac surrounding a developing fetus , and
the fetal DNA is examined for genetic abnormalities.
Percutaneous Umbilical Blood
Sampling (PUBS)
also called “cordocentesis”, fetal blood sampling,
or umbilical vein sampling is a diagnostic genetic test
that examines blood from the fetal umbilical cord to
detect fetal abnormalities.
Karyotype analysis
a test that evaluates the number and structure of a
person's chromosomes in order to detect abnormalities
is a techniques where chromosomes are visualized
under a microscope. Cells are collected from an
individual, induced to divide, and then arrested at
metaphase (a stage of cell division when the
chromosome are condensed and therefore visible).
Prenatal FISH
( fluorescence in situ hybridization)
It is useful for detecting aneuploid conditions
(trisomies, monosomies).
Down Syndrome
Cri Du Chat syndrome
References
Essential Genetics, 2nd edition by Daniel Hart et. al
Cytogenetics by Frederic Miller
Molecular Cytogenetics; Protocols and Application
by Yao Shan
The Principles of Cytogenetics by Steven Gersen
Cytogenetics of Human Germ Cells by R.H Martin
Cytogenetics notes by Gerard Ramos
