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Patho chp 6

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
Created by: 1480781538