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Patho chp 6
| Term | Definition |
|---|---|
| allele | One of two or more different forms of a gene that can occupy a particular locus on a chromosome |
| mosaicism | In genetics, the presence in an individual or in an organism of cell cultures having two or more cell lines that differ in genetic constitution but are derived from a single zygote |
| aneuploidy | A variation in the number of chromosomes within a cell involving one or more missing chromosomes rather than entire sets |
| homozygous | Having two identical alleles at corresponding loci on homologous chromosomes |
| heterozygous | Having two different alleles at corresponding loci on homologous chromosomes |
| Prenatal diagnosis | includes the use of ultrasonography, maternal blood screening, amniocentesis, chorionic villus sampling, and percutaneous umbilical fetal blood sampling |
| Ultrasonography | used for determination of fetal size and position and for the presence of structural anomalies |
| Maternal blood screening | measures α-fetoprotein (AFP), unconjugated estriol, and chorionic gonadotropin (hCG), is used to assess for neural tube defects (AFP) and Down syndrome (AFP, unconjugated estriol, and hCG) |
| Amniocentesis | chorionic villus sampling, and percutaneous umbilical blood sampling are used to obtain specimens for cytogenetic and biochemical studies |