• Join over 1.2 million students every month
  • Accelerate your learning by 29%
  • Unlimited access from just £6.99 per month

Genetic disorders that can be revealed by kariotype analysis.

Extracts from this document...

Introduction

Genetic disorders that can be revealed by kariotype analysis Among the numerous genetic disorders that contemporary medicine knows about are some that are caused by changes in number and structure of chromosomes. Therefore, they can be investigated by kariotype analysis. I would like to describe some of the most well-known disorders caused by numerical aberrations in chromosomes. First of all, numerical changes can be either: * Polyploidy - condition in which there are more than two complete sets of corresponding chromosomes. Triploidy and tetraploidy are the most common forms of polyploidy. It is naturally occurring in plants. In humans, polyploidy is lethal. * Aneuploidy - condition in which in one pair of chromosomes there is one more (trisomy) ...read more.

Middle

is usually lethal in early foetal development. There are few genetic diseases that are results of aneuploidy: 1. Down's Syndrome - it is the most common of trisomies (1/650 newborns) and perhaps also the most well-known. It is caused by trisomy in the 21st pair of chromosomes?. Among the symptoms is always mental retardation to different extent. Other phenotypic features are various - they occur to different extent, be present, or not at all. Some of the most common phenotypic features include: big distance between I and II toes, open mouth, short neck, short and broad palms, big tongue, heart defects. 2. Edwards' Syndrome - occurs in 1/3500 newborns and is caused by trisomy in the 18th pair of chromosomes. ...read more.

Conclusion

The frequency of appearance is 1/2500 newborn girls. In Poland, there are about 9000 women with the disease and 100 are born with it annually. The characteristic features of girls suffering from the disorder are: too much skin on the neck, lymphatic oedema of limbs, being short height, reproductive organs not fully developed, numerous defects of internal organs. A girl treated with growth hormone, taking it everyday for several years, can eventually reach the height of a small normal woman as an adult. It is worth noting that the risk of giving birth to a child showing aneuploidy rises with the age of the mother. Therefore, if the mother is over 35, or genetic disorders occurred in close family of either the father or the mother, the prospective parents are advised to seek help from genetic counselling. ...read more.

The above preview is unformatted text

This student written piece of work is one of many that can be found in our AS and A Level Genetics, Evolution & Biodiversity section.

Found what you're looking for?

  • Start learning 29% faster today
  • 150,000+ documents available
  • Just £6.99 a month

Not the one? Search for your essay title...
  • Join over 1.2 million students every month
  • Accelerate your learning by 29%
  • Unlimited access from just £6.99 per month

See related essaysSee related essays

Related AS and A Level Genetics, Evolution & Biodiversity essays

  1. Investigate how the height to width ratio of Limpets varies with distance from sea

    I will then be able to accurately replicate the beach profile and will prove to be useful when analysing my results, as this may * A measuring tape will cover the length of shore from the edge of the sea to the end of the beach.

  2. The Biology of Autistic Spectrum Disorder and the Social Implications

    When money is handed over to facilities or departments it is what they do with the money that's important. So some questions need to be directed at the facilities or departments such as the NHS. The Right Training for Every Teacher As with the need for the right school for

  1. HSC maintaining a balance notes

    and 40% DNA. Genes are small length DNA linked together to make up a chromosome. 3. c) Structure of DNA DNA is a nucleic acid that has double stranded molecules twisted into a double helix.

  2. patterns of growth and development

    3 years- The child can stand on one leg. When walking up the stairs they can put one foot on each stair. They cant do it on the way down and often jump off the bottom step. 4 years- At this age the child can now use one foot for each step when walking down the stairs and can hop.

  1. Genetic disorders: Apert syndrome. Introduction Genetic disorders, refers to a medical condition which has ...

    The most important feature is the abnormality of growth in the different areas of the skull and face, which requires surgery to correct, but this doesn't re-establish growth, at a normal rate, but dose provide space for the brain to grow.

  2. Management style, culture & organizational structure.

    and tube G has dideoxy G (G*). The dideoxy nucleotides are present at about 1% of the concentration of the normal nucleotides. * Let the DNA polymerase synthesise many copies of the DNA sample. From time to time at random a dideoxy nucleotide will be added to the growing chain and synthesis of that chain will then stop.

  • Over 160,000 pieces
    of student written work
  • Annotated by
    experienced teachers
  • Ideas and feedback to
    improve your own work