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Turner Syndrome - Glossary

Written by Dr. Varshini Jayaraman,  Ph.D. , Suchitra Chari | Medically Reviewed by Dr. Lakshmi Venkataraman, MD on Nov 18, 2016
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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.

DNA: The DNA is the basic unit of heredity and is known as the blue print of life. It carries the genetic code which stores the necessary information for all organisms.

Genotype: Genotype indicates the genetic constitution of an organism.

Phenotype: Phenotype refers to the physical appearance of an organism which is controlled by the genotype and the enviornment.

Haploid Cell: A cell having only one set of chromosomes,ie.23 pairs in humans.
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Diploid Cell: Having two sets of chromosomes (46) in humans.

Hybrid: An offspring of parents belonging to two different species,example mule which is the offspring of a horse and donkey.

Mutation: An inheritable change in the gene or the chromosome.

Wild Type: An organism having a normal phenotype.

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 chromosomes in humans, it is euploid.

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

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Comments

Suma10

I am 29 years old and I am suffering from TS.My secondary sex organs are not developed at all. I wanted to know that can it be done if I start the treatment now.

alisha66

Chromosomes holds the genetic keys to all of the functions of body. Turner syndrome is a condition that affects approximately 1 in 200 females.Turner syndrome occurs when both of the X chromosomes normally found in women are missing. Chromosomes are the deoxyribonucleic acid strands found in every cell in the body. The X chromosomes may be completely missing or only partially present, in Turner syndrome.

Sugarnojutsu

Does each cell have to contain 45 chromosomes? If so why?

hemantp

my daughter is also suffering from TS Variant, one type of TS. we are treating her with Growth Hormone Treatment(GHT)past 7 months & recently it shows improvement in growth of height. she is 14 & we came to know at that time. can anybody tell is it harmful. how long period it has be continued

Ammushoba

Hi This is Shoba. My daughter is TS diagnosed at 13. We gave her GH treatment for about 4 years and her height is 5.1 now. She is 22. Doing well in her studies.

Debasishconar

Hi Ammushoba, Do you how much it costs for GH treatment per year? I live in overseas and would like to know the cost of the treatment in India.

Lache

my sister has TS. i would just like to know how does the treatment work, seeing that she's 14yrs old already?

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