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Allele
Code for phenotype or characteristic manifested in an individual.
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Amniocentisis
Extraction of amniotic fluid from the uterus and extraction of a sample of the chorionic villus of the fetus so as to examine a sample of fetal tissue.
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Anomaly
An abnormal structure, often genetic
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Autosomes
22 of the 23 pairs of chromosomes, with the exception of #23, which determines the sex traits
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Expression
The effect or phenotype of an altered gene.
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Gene penetration
Frequency of expression of gene among individuals carrying the gene.
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Genotype
The genetic makeup of a cell or individual.
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Heterozygous
One normal gene and one disease gene are present in the pair.
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Incomplete dominant
When heterozygotes display clinical signs of a disease, and homozygotes show the full expression of the disease.
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Karyotype
A visual demonstration of the pairs of cell chromosomes arranged by size.
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Meiosis
Type of cell reproduction in humans where each sperm and ovum receive only 23 chromosomes, or one chromosomes from each pair.
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Mitosis
Process of cell reproduction resulting in two daughter cells with the same DNA as the parent cell.
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Mutation
Change that occurs as a result of an error in the process of meiosis or mitosis and alters the genetic material.
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Organogenisis
During the first 2 months of embryonic life when the cells are rapidly dividing and differentiating.
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Phenotype
The effect or expression of an altered gene.
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Polygenic
Multifactorial diseases caused by multiple genes.
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Teratogenic
Agents that cause damage during embryonic or fetal development.
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Trisomy
Three chromosomes rather than 2. Often the case with Down's Syndrome.
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What is TORCH?
Acronym applied to routine prenatal screening tests for high risk maternal infections -
- Toxoplasmosis
- Other - Hep B, mumps, varicella, gonorrhea, syphilis,
- Rubella
- Cytomegalovirus
- Herpes
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