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.

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.

172-Karyotype-Turner-syndro.gif 171-Karyotype-Down-syndrome.gif
 Karyotype of Turner syndrome (45 chromosomes instead of 46)  Karyotype of Down Syndrome (47 chromosomes instead of 46)

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

Image: National Human Genome Research Institute


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