Multifactorial Birth Defects - Glossary

Multifactorial Birth Defects - 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 codes 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 numbers in humans

Diploid Cell - Having two sets of chromosomes,46 numbers 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 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.

Cite this Article ⇣⇡

Please use one of the following formats to cite this article in your essay, paper or report:

• APA

  Dr. Reeja Tharu. (2014, April 05). Multifactorial Birth Defects - Glossary. Medindia. Retrieved on Nov 28, 2024 from https://www.medindia.net/health/conditions/multifactorial-birth-defects-glossary.htm.

• MLA

  Dr. Reeja Tharu. "Multifactorial Birth Defects - Glossary". Medindia. Nov 28, 2024. <https://www.medindia.net/health/conditions/multifactorial-birth-defects-glossary.htm>.

• Chicago

  Dr. Reeja Tharu. "Multifactorial Birth Defects - Glossary". Medindia. https://www.medindia.net/health/conditions/multifactorial-birth-defects-glossary.htm. (accessed Nov 28, 2024).

• Harvard

  Dr. Reeja Tharu. 2014. Multifactorial Birth Defects - Glossary. Medindia, viewed Nov 28, 2024, https://www.medindia.net/health/conditions/multifactorial-birth-defects-glossary.htm.