CYTO WEEKS 14-15: CHROMSOMAL ABERRATIONS v If more than two sets are present, the term

polyploidy applies
CHROMOSOME MUTATIONS OR CHROMSOME
• Triploid (3n) – three sets of
ABERRATIONS
chromosomes
v Most diploid species normally contain precisely • Tetraploid (4n) – four sets of
two haploid chromosome sets, but many known chromosomes
cases vary from this pattern
v Modifications include a change in the total
number of chromosomes, the deletion or
duplication of genes or segments of a
chromosome, and rearrangement of the genetic
material either within or among chromosomes.
v The genetic component of an organism is
delicately balanced, and ever minor alterations of
either content or location of genetic information
within the genome can result in some form of
phenotypic variation

GUIDE TO CHROMOSOMAL ABERRATIONS

Monosomy (2n-1)
Variation in Aneuploidy
Trisomy (2n+1)
chromosome
Triploidy (3n) ORIGINS
number Polyploidy
Tetraploidy (4n)
Deletion Terminal deletion v These chromosomal variations originate as a
Intercalary random error during the production of gametes, a
deletion phenomenon referred to as nondisjunction,
Duplication whereby paired homologs fail to disjoin during
segregation
Variation in Inversion Paracentric
v This disrupts the normal distribution of
Composition inversion
chromosomes into gametes
and Pericentric
v Can happen during meiosis I or meiosis II
arrangement inversion
Transformation Reciprocal
translocation
Robertsonian
translocation

VARIATION IN CHROMSOME NUMBER

TERMINOLOGY AND ORIGIN

v Variation in chromosome number ranges from the

addition or loss of one or more chromosomes to
the addition of one or more haploid sets of
chromosomes ANEUPLOIDY
v Aneuploidy– an organism gains or loses one or
v Addition or loss of individual chromosome from
more chromosomes but not a complete set
the normal diploid set of 46
• Monosomy (2n - 1) – loss of a single
v Most common cause is nondisjunction (especially
chromosome from an otherwise diploid
during meiosis)
genome
v The phenotypic effects range from minor physical
• Trisomy (2n + 1) – gain of one symptoms to devastating and lethal deficiencies
chromosome
in major organ systems
v Euploidy – complete haploid sets of v Among survivors, phenotypic effects often
chromosomes are present
include behavioral deficits and mental retardation
MONOSOMY (2n - 1)

v It is the loss of one chromosome from a diploid

complement
v Although monosomy for the X chromosome
occurs in humans, monosomy for any of the
autosomes is not usually tolerated in humans or
animals
v The failure of monosomic individuals to survive is
first quite puzzling, since at least a single copy of POLYPLOIDY IN HUMANS
every gene is present in the remaining homolog
v An explanation is that if just one of those genes is v Polyploidy can arise in several ways
represented by a lethal allele, monosomy 1. Errors in meiosis during gamete formation
unmasks the recessive lethal allele 2. Events at fertilization
v In other cases, a single copy of a recessive gene 3. Errors in mitosis after fertilization
may be insufficient to provide life sustaining v Polyploidy can result from errors in mitosis or
function (called haploinsufficiency) meiosis
v If homologous chromosomes fail to separate
TRISOMY (2n + 1) during meiosis I, meiosis II will produce a diploid
v Addition of an extra chromosome produces gamete. Fusion of this diploid gamete with a
somewhat more viable individuals than does the normal haploid gamete will produce a triploid
loss of a chromosome zygote (3n)
v In animals, this is often true, provided that the v It can also be produced at fertilization by the
chromosome involved is relatively small simultaneous penetration of a haploid egg by two
v The addition of a large autosome to the diploid haploid sperm ( ). The resulting zygote contains
complement in humans has severe effects and is three haploid chromosome sets and is triploid
usually lethal during development TRIPLOIDY
POLYDIPLOIDY v The most common polyploidy in humans, found in
v Describes instances in which more than two 15% to 18% of all spontaneous abortions
multiples of the haploid chromosome set are v Approximately 75% of all cases of triploidy have
found two sets of paternal chromosomes
v A triploid has 3n chromosomes; a tetraploid has v Most triploid zygotes arise as a result of dispermy
4n; a pentaploid, 5n; and so forth
v Infrequent in animal species but is well known in
lizards, amphibians, and fish, and is much more
common in plants
v Classified as either Autopolyploidy or
Allopolyploidy
v Autopolyploidy – addition of one or more extra
sets of chromosomes identical to the normal
haploid complement of the same species
v Allopolyploidy – combination of chromosome
sets from different species occurring as a
consequence of hybridization TETRAPLOIDY
v The distinction between the two is based on the
genetic origin of the extra chromosome sets v It can result from a failure of cytokinesis in the first
mitotic division after fertilization
v If tetraploidy arises sometime after the first mitotic
division, two different cell types are
VARIATION IN COMPOSITION AND ARRANGEMENT v However, the unusual pairing arrangements often
lead to gametes that are duplicated or deficient
VARIATION IN THE COMPOSITION AND
for some chromosomal regions
ARRANGEMENT OF CHROMOSOMES v The offspring of carriers of certain aberrations
v Included in this broad category are deletions and have an increased probability of demonstrating
duplications of genes or part of a chromosome phenotypic changes
and rearrangements of genetic material in which
DELETION
a chromosome segment is inverted, exchanged
with a segment of a nonhomologous v When a chromosome breaks in one or more
chromosome, or merely transferred to another places and a portion of it is lost, the missing piece
chromosome is called a deletion (deficiency)
v Exchange and transfers are called v The deletion can occur either near one end
translocations, in which the locations of genes (terminal deletion) or within the interior of the
are altered within the genome chromosome (intercalary deletion)

v For synapsis to occur between a chromosome

with a large intercalary deletion and a normal
homolog, the unpaired region of the normal
homolog must “buckle out” into a deletion or
compensation loop
v If only a small part of a chromosome is deleted,
the organism might survive
v If even more genetic information is lost as a result
of a deletion, the aberration is often lethal
v In most instances, these structural changes are
due to one or more breaks along the axis of a
chromosome, followed by either the loss or
rearrangement of genetic material
v The ends produced at points of breakage are
“sticky” and can rejoin other broken ends
v If the breakage and rejoining do not reestablish
the original relationship and if the alteration
occurs in germ plasm, the gametes will contain DUPLICATION
the structural rearrangement, which is heritable
v If the aberration is found in one homolog but not v When any part of the genetic material, either a
the other, the individual is said to be single locus or a large piece of a chromosome, is
heterozygous for the aberration present more then once in the genome, it is called
v In such cases, unusual but characteristic pairing a duplication
configurations are formed during meiotic v As in deletions, pairing in heterozygotes can
synapsis produce a compensation loop
v If no loss or gain in genetic material occurs, v Duplications may arise as the result of unequal
individuals bearing the aberration heterozygously crossing over between synapsed chromosomes
are likely to be unaffected phenotypically during meiosis or through replication error prior to
meiosis
INVERSIONS

v A type of chromosomal aberration in which a

segment of a chromosome is turned around 180
degrees within a chromosome
v An inversion requires breaks at two points along
the length of the chromosome and subsequence
reinsertion of the inverted segment
v Paracentric inversion – the centromere is not
part of the rearranged chromosome segment v When crossover occurs within a paracentric
v Pericentric inversion – the centromere is part of inversion, one recombinant dicentric chromatid
the inverted segment (two centromeres) and one recombinant acentric
chromatid (lacking a centromere) are produced
v Both contain duplications and deletions of the
chromosome segments as well

TRANSLOCATION

v Movement of chromosomal segment to a new

location in the genome
v Reciprocal translocation involves the exchange of
segments between two nonhomologous
chromosomes
v The genetic consequences of reciprocal
translocations are similar to those of inversions
v Genetic information is not lost or gained, there is
only a rearrangement of the genetic material
v The presence of a translocation does not directly
alter the viability of individuals bearing it

CONSEQUENCES OF INVERSIONS IN GAMETE

FORMATION

v Organisms with one inverted chromosome and

one noninverted homolog are called inversion
v Homologs that are heterozygous for a reciprocal
heterozygotes
translocation undergo unorthodox synapsis
v Pairing between two such chromosomes in
during meiosis
meiosis is accomplished only if they form an
v The pairing results in a cross-like configuration
inversion loop
v As with inversions, genetically unbalanced
v If crossing over occur within the inversion loop,
gametes are also produced as a result of this
abnormal chromatids are produced
unusual alignment during meiosis
 ü 1 and 4 are genetically balanced

ROBERTSONIAN TRANSLOCATION

v When breaks at the extreme ends of the short

arms of two nonhomologous acrocentric
chromosomes occur, the small segments are lost
and the larger segments fuse at their centromeric
region
v This type of translocation produces a new, large,
submetacentric or metacentric chromosome,
often called a Robertsonian translocation