Chromosomal Abnormalities
Normally, humans have 23 pairs of chromosomes - making 46 in total. This
includes one pair of chromosomes which are the sex chromosomes. The ova
and the sperm each carry 23 chromosomes.
Numerical Aberrations
Structural Aberrations
Chromosomal abnormalities occur when there is a defect in a chromosome,
or in the arrangement of the genetic material on the chromosome. Very
often, chromosome abnormalities give rise to specific physical symptoms,
however, the severity of these can vary from individual to individual.
Abnormalities can be in the form of additional material which may be
attached to a chromosome, or where part or a whole chromosome is missing,
or even in defective formation of a chromosome. Any increases or decreases
in chromosomal material interfere with normal development and function.
There are two main types of chromosomal abnormality which can occur
during meiosis and fertilization: numerical aberrations and structural
aberrations.
Numerical Aberrations
These are usually caused by a failure of chromosome division, which results
in cells with an extra chromosome or a deficiency in chromosomes.
Gametes with these anomalies can result in conditions such as Down
syndrome (who have 47 chromosomes instead of 46), or Turner syndrome
(45 chromosomes). Common types of numerical aberrations are: triploidy,
trisomy, monosomy and mosaicism.
Karyotype of
Turner syndrome
Karyotype of
Down Syndrome
(45 chromosomes instead of 46)
chromosomes instead of 46)
(47
Structural Aberrations
These occur due to a loss or genetic material, or a rearrangement in the
location of the genetic material. They include: deletions, duplications,
inversions, ring formations, and translocations.
Deletions: A portion of the chromosome is missing or deleted. Known
disorders include Wolf-Hirschhorn syndrome, which is caused by partial
deletion of the short arm of chromosome 4; and Jacobsen syndrome, also
called the terminal 11q deletion disorder.
Duplications: A portion of the chromosome is duplicated, resulting in
extra genetic material. Known disorders include Charcot-Marie-Tooth disease
type 1A which may be caused by duplication of the gene encoding peripheral
myelin protein 22 (PMP22) on chromosome 17.
Translocations: When a portion of one chromosome is transferred to
another chromosome. There are two main types of translocations. In a
reciprocal translocation, segments from two different chromosomes have
been exchanged. In a Robertsonian translocation, an entire chromosome has
attached to another at the centromere; these only occur with chromosomes
13, 14, 15, 21 and 22.
Inversions: A portion of the chromosome has broken off, turned upside
down and reattached, therefore the genetic material is inverted.
Rings: A portion of a chromosome has broken off and formed a circle or
ring. This can happen with or without loss of genetic material.
Isochromosome: Formed by the mirror image copy of a chromosome
segment including the centromere.
Structural aberrations also include some disorders which are characterized
by chromosomal instability and breakage. One example, is the creation of a
fragile site on the X Chromosome - Fragile X syndrome. Boys are worse
affected by this because they only have one X-Chromosome but even in girls,
Fragile X syndrome can cause learning difficulties.
Most chromosome anomalies occur as an accident in the egg or sperm,
and are therefore not inherited. The anomaly is present in every cell of the
body. Some anomalies, however, can happen after conception, resulting in
mosaicism (where some cells have the anomaly and some do not).
Chromosome anomalies can be inherited from a parent or be "de novo". This
is why chromosome studies are often performed on parents when a child is
found to have an anomaly.
Translocation - showing a portion of one chromosome transferred to another
chromosome
