Help
Options
Didn't know it?
click below
click below
Knew it?
click below
click below
Don't Know
Remaining cards (0)
Know
retry
shuffle
restart
0:00
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
patho ch 21
| Term | Definition |
|---|---|
| allele | one of two forms of a gene in a chromosome pair that code for a characteristic manifested in an individual |
| amniocentesis | removal of a small amount of amniotic fluid from around the fetus for examination and diagnosis |
| anomally | an abnormal structure, often congenital |
| autosomes | any of the 22 pairs of chromosomes in humans other than the pair concerned with determination of sex |
| expression | the manifestation of a heritable trait in an individual carrying the gene or genes that determine it. |
| gene penetration | frequency of expression of a gene among those that carry the gene |
| genotype | The genetic constitution of an individual |
| heterozygous | when a child inherits one normal copy and one disease gene from the parents |
| homozygous | when both parents pass on a copy of the defective gene |
| incomplete dominant | a wide range of disease states are present in both recessive and dominant patterns of inheritance |
| karyotype | a visual demonstration of the pairs of cell chromosomes arranged in order of size |
| meiosis | the process of cell division by which reproductive cells (gametes) are formed |
| mitosis | a process of cell reproduction resulting in two daughter cells with the same DNA as the parent cell |
| mutation | a change in the genetic information of a cell which will be inherited |
| neonates | a newborn child |
| organogenesis | the formation and differentiation of organs and systems during the embryonic period |
| phenotype | the characteristics manifested in a person depending on genetic and environmental factors |
| polygenic | caused by multiple genes |
| teratogenic | substance or condition that can impair normal development of the embryo or fetus in utero, causing congenital anomally |
| trisomy | cells that contain an extra chromosome |
| Congenital disorders | Disorders present at birth and may include genetic or developmental disorders |
| Autosomal recessive | Genetic disorder in which both parents must pass the defective the defective gene. Males and females are affected equally |
| Autosomal dominant | Presence of the defect in only one alleo produces clinical expression of the disease |
| X linked dominant | Most common cause of mental retardation, cognitive deficit and learning disorders |
| X linked recessive | Usually carried on the X chromosome. Females are carriers and heterosexual. Males manifest the disorder |
| Multi factoral | Involve a number of genetic influences combined with environmental factors |
| Developmental disorders | Negative environmental factors that are thought to be terratogenic |
| Down syndrome | 3 chromosomes rather than 2 at the 21st position |
| Single gene disorders | Caused by a change in one gene within the reproductive cells |
| Chromosomal abnormalities | Result from an error during meiosis when DNA fragments are displaced or lost |
| congenital | may be caused by genetics- single gene defect or chromosomal defect or may be multifactoral |
| autosomal recessive disorder | child affected if both parents are carriers and the child inherits an abnormal gene from each parent |
| autosomal dominant disorder | child affected if one affected parent passes the gene to the child |
| x linked dominant | child affected if they inherit the dominant gene on the x chromosome |
| x linked recessive | manifests in heterozygous males. Females are carriers |
| multifactoral disorders | caused by a number of genes combined with environmental factors |
| developmental disorders | caused by negative environmental factors that are thought to be teratogens |
| Down syndrome | risk increases with maternal age |
| single gene disorders | caused by a mutation in a sperm cell or ovum |
| chromosomal abnormalities | caused by an error in meiosis |
| Autosomal recessive | 25% chance that the child will inherit a bad gene from each parent and will be affected. 50% chance they will inherit one bad gene and one normal gene and will be a carrier |
| Autosomal dominant | 50% chance they will inherit the bad gene from the affected parent and will be affected |
| Down syndrome | Small head, flat facial profile, slanted eyes, brushfield spot brushfield spots, large protruding tongue, developmental delays And cognitive impairment |
Created by:
boringjen