Genetic Counseling - Glossary

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Genetic Counseling - Glossary

Mosaic – An individual with two cell types or more, comprising of different chromosome number or structure

Genetic Counselling - A communicative procedure that undertakes to deal with the problems that
rise in a family with the occurrence or the risk of occurrence of a genetic abnormality

Pedigree - A pedigree involves recording a family’s history and making use of a standard set of symbols to represent the status
of each member of the family

Allele - An allele is an alternative form of a gene loated on a given locus of a chromosome

Gene – Genes are located on the chromosomes and carry the information representing a protein

Chromosomes - Chromosomes are structures made up of DNA and proteins found in the cells of all organisms.The number of chromosomes is species- specific.In humans it is 46.

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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

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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