Multifactorial Birth Defects - GlossaryMosaic - 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.
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Dr. Reeja Tharu. "Multifactorial Birth Defects - Glossary". Medindia. https://www.medindia.net/patients/patientinfo/multifactorialbirthdefects_glossary.htm. (accessed May 20, 2022).
Dr. Reeja Tharu. 2021. Multifactorial Birth Defects - Glossary. Medindia, viewed May 20, 2022, https://www.medindia.net/patients/patientinfo/multifactorialbirthdefects_glossary.htm.
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