Chromosomal Abnormalities: Difference between revisions
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Otherwise classification of chromosomal abnormalities depends on fact which type of chromosome is affected - '''autosomes''' ([[Down syndrome]], [[DiGeorge syndrome]]) or [[The Sex Chromosomes and Sex Determination|'''sex chromosomes''']] ([[Klinefelter syndrome]], [[Turner syndrome]]). | Otherwise classification of chromosomal abnormalities depends on fact which type of chromosome is affected - '''autosomes''' ([[Down syndrome]], [[DiGeorge syndrome]]) or [[The Sex Chromosomes and Sex Determination|'''sex chromosomes''']] ([[Klinefelter syndrome]], [[Turner syndrome]]). | ||
== Types of Structural Abnormalities == | |||
[[File:Ring chromosome2.jpg|thumb|150px|Ring chromosome]] | |||
;Translocation | |||
* | |||
; Deletion | |||
* | |||
* One special example of deletion exists. It is called "ring chromosome". It is a situation when chromosome lost both of its ends. The long and the small arms then connect together and chromosome became a ring shaped. | |||
; Inversion | |||
* | |||
; Isochromosomes | |||
* | |||
; Ring chromosome | |||
* | |||
== How We Denoted Parts of a Chromosome == | |||
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Revision as of 12:19, 11 August 2011
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This article was marked by its author as Under construction, but the last edit is older than 30 days. If you want to edit this page, please try to contact its author first (you fill find him in the history). Watch the discussion as well. If the author will not continue in work, remove the template Last update: Thursday, 11 Aug 2011 at 12.19 pm. |
Chromosomal abnormalities - sometimes also called cytogenetic disorders - are very common at all. Although we don´t see many affected people. How it is possible? The fetus with some chromosomal abnormality is usually not able to survive. About 50% of first-trimester abortions is connected with some cytogenetic mistake. The incidence of chromosomal abnormalities is approximately 1 from 200 of newborns. [1].
We recognize two types of chromosomal abnormalities:
- numeric
- structural
We are able to find the disorders due to karyotype testing. The cytogeneticists get the samples (blood, amnion fluid), then stained the chromosomes and put then in the right order by their length. Then we can see some changes in pattern (banding). The most typical method is Giemsa stain, so it is usually called "G banging". This is important for structural abnormalities. Numeral abnormalities we could find even easier.
Otherwise classification of chromosomal abnormalities depends on fact which type of chromosome is affected - autosomes (Down syndrome, DiGeorge syndrome) or sex chromosomes (Klinefelter syndrome, Turner syndrome).
Types of Structural Abnormalities
- Translocation
- Deletion
- One special example of deletion exists. It is called "ring chromosome". It is a situation when chromosome lost both of its ends. The long and the small arms then connect together and chromosome became a ring shaped.
- Inversion
- Isochromosomes
- Ring chromosome
How We Denoted Parts of a Chromosome
Links
Related articles
- Karyotype
- Disorders of the Autosomes
- Disorders of the Sex Chromosomes
- The Sex Chromosomes and Sex Determination
External links
Sources
References
KUMAR, ABBAS, FAUSTO, MITCHELL,, et al. Robbins Basic Pathology. 8th edition edition. 2007. ISBN 978-0-8089-2366-4.
- ↑ About 50% of first-trimester abortions is connected with some cytogenetic mistake. The incidence of chromosomal abnormalities is approximately 1 from 200 of newborns
