Genetic Counseling - Glossary

Mutant - An organism harboring a mutation

Trisomy - A condition ,which arises due to the presence of an extra chromosome.An example is Down syndrome, where the individual has an extra chromosome 21


Mitosis - A division by which the cells reproduce, wherein the resultant cells are the replica of the parent cell.

Meiosis - A special kind of cell division,called reduction division, that takes place in the testes and the ovaries, which produces eggs and sperms that are haploid

Consanguinous marriage - A marriage between two closely related individuals

Euploidy - When an organism has the regular chromosome number,example 46 numbers in humans, it is euploid.

Aneuploidy - When an organism has an abnormal number of chromosomes as in Down Syndrome,it is known as aneuploidy.

Comments

nagarasan Monday, December 28, 2009

I am Nagarasan in India. I am affected with congental myotonia from childhood. What genetic counseling is there for curing this in gene theraphy.

@Guest Thursday, March 5, 2015

Gene therapy is still not an approved therapy in human beings.

However, limited symptomatic treatment may be available.

Also, if you have the genetic confirmation of the disorder, you can potentially prevent the future generation from inheriting the same condition.

Regards,

Dr. Risha Nahar
Genetic Consultant

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