Page |1

CHROMOSOMES ABNORMALITIES  Polyploid – many organisms have

more than two sets of homologous
 Causes of birth defect Spontaneous chromosomes
Abortion are: - a chromosome number
o Chromosomal abnormalities that is a multiple of haploid number
o Genetic factors of (23) other than a diploi number;
 Ploidy – number of sets of e.g. 69
chromosomes. o Triploidy – generally results from
o n – Monoploidy/ Haploidy DISPERMY: ferlitization of the egg
o 2n – Diploidy by 2 sperm simultaneuosly.
o 3n – Triploidy o Tetraploidy – very rare and
o 4n – Tetraploidy always lethal
o 5n – Pentaploidy – usually due to
o 6n – Hexaploidy failure of first mitotic division:
o 7n – Heptaploidy chromosomes replicate and
 Euploid – whole set divide, but all end up in the same
 Haploid – sex cells; “n” ( in normal nucleus
gametes)
 Diploid – “2n” ( in normal somatic cells) ANEUPLOID

CHROMOSOMAL ABNORMALITIES  Aneuploid – is any chromosomes

 Can occur during meiotic or mitotic
division
 Two (2) Types:
o Numerical – number
o Structural – structure of
chromosomes
 Three (3) Basic Types
o Polyploidy – having more than 2
sets of chromosomes
o Aneuploidy – having an extra
copy or a missing copy of a single
chromosome. ( NOTE: equal
numbers of all chromosomes is
euploid)
o Mixoploidy – having cell lines with
dfferent chromosomal institutions.
o Mosaic – derived from a
songle zygote
o Chimeras – derived from
the fusion of 2 different
embryos
number that is not a euploid.
 Aneuploid Karyotypes are given names
with the suffix “-somy” ( rather than -
ploidy, used for Euploid Karyotypes),
such as Trisomy and Monosomy.
ANEUPLOIDY
 Aneuploidy – is an abnormal number of
chromosomes such as having a single
extra chromosome (45).
 Two (2) Causes:
o Non-disjuction: paired dhajaba
chromosomes both go to the same
pole in meiosis instead of to
opposite poles.
o Anaphase lag: a chromosome
moves to the pole so slowly that it
doesn’t get incorporated into the
nucleu as it form in telophase.
DISTINCTION BET. ANEUPLOIDY AND
POLYPLOIDY

 Aneuploidy refers to a numerical

change in part of the chromosome set,
whereas Polyploidy refers to a
POLYPLOID numerical change in the whole set of
chromosomes.

CYTOGENETICS REVIEWER | NAVERA JERICO

 Page |2

NUMERICAL CHROMOSOMAL  Chromosomal Deletion – when cells

ABNORMALITIES go through meiosis, portions of the
chromosomes are loses
 Meiotic Non Disjunction
 Chromosomal Inversion – when cells
o May involve autosomes or sex
go through meiosis, parts of the
chromosomes
chromosome are flipped
o In females incidence increases
 Chromosomal Translocation – when
with age 35 years or more
cells go through meiosis, parts of the
o Meiosis I: two members of
chromosome stick together and switch
homologous chromosomes fails to
separate and both members of a  Chromosmal Non- Disjunction – when
pair move into one cell cells go through meiosis, the
o Meiosis II: when sister chromatids chromosomes don’t separate correctly
fal to separate and either too many or not eanough are
passed on
 Mitotic Non Disjuntion
o Mosaicism: CHROMOSOMAL DISORDERS
o Some cells have abnormal
chromosomal number and  Occur when the chromosome’s structure
others have normal is altered, this can tae several forms:
o Occurs in the earlieast cell translocation, deletion or duplication
divisions of chromosomes.
o Affected individuals exhibit  Chromosomes breaks occur either as a
characteristics of a particular result of damage to DNA (by radiation or
syndrome; e.g. down chemicals) or as part of the mechanism
syndrome in 1% cases of recombination
 Chromosomal Translocations  However, the total number of
o When a portion of one chromosomes is usually normal
chromosome is transferred to SINGLE CHROMOSOME DISORDER
another non homologous
chromosome and a fusion gene is  Deletion – genetic material is missing
created.  Duplication – genetic material is
o Two (2) Main Types of present twice
Translocation:  Inversion – genetic material is flipped
o Balanced: an even exchange
of material with no genetic TYPE OF CHROMOSOME DISORDER
information is extra or  Deletion – breaks in chromosomes;
missing, and individual is deleted genetic material
normal.  Ring Chromosome – the two ends
o Unbalanced: where the
which are the telomeres are deleted
exchange of genetic material
 Isochromosome – reduplicated;
is unequal and part of one
unusual crossover of chromatid
chromosome is lost & altered
 Balanced Translocation – one
phenotype is produced
segment transferred to another equally
(Down’s Syndrome – 4%
 Paracentric Inversion – only certain
cases)
region or part is involved, either of qar or
CHROMOSOMAL DISORDERS p-arm or the centromere

CYTOGENETICS REVIEWER | NAVERA JERICO

 Page |3

TWO CHROMOSOME DISORDERS

 Insertion –material is added from

another chromosome
 Translocation – material is swapped
with another chromosome
HUMAN CHROMOSOMAL

 Numerical ( Chromosomal Disorders)

o Trisomy: 3 copies of single
chromosome 47
o Monosomy: 1 copy of a single
chromosome 45
o Triploidy: 3N
o Tetraploidy: 4N
 Structural ( Chromosomal Disorders)
o Deletion
o Duplication
o Translocation ( involves 2
chromosomes)
CAUSES OF CHROMOSOMAL DISORDER

 Radiation
 Autoimmunity
 Virus infection
 Chemical toxins

CYTOGENETICS REVIEWER | NAVERA JERICO