| A | B |
|---|
| Genetic Disorder | a disease or disorder that is inherited genetically |
| single gene disorder | Disease caused by a mutation within one gene |
| autosomal dominant disorder | a disease caused by a dominant mutant gene on an autosome |
| autosomal recessive disorder | only manifests clinically when both alleless at a given locus on homozygous are defective |
| X-linked dominant disorder | caused by dominant mutations in genes on the X chromosome |
| X-linked recessive disorder | Males are more frequently affected than females, and the chance of passing on the disorder differs between men and women |
| Huntington's disease | an autosomal dominant genetically inherited condition characterized by uncontrollable body movements and degeneration of the nervous system |
| Familial hypercholesterolemia | congenital metabolic disorder characterized by high levels of cholesterol and early development of atherosclerosis |
| Sickle cell anemia | an autosomal recessive genetic disorder that causes abnormal hemoglobin, resulting in some red blood cells assuming an abnormal curved shape |
| Cystic fibrosis | an autosomal recessive inherited disorder of exocrine glands resulting in thick, mucous secretions that do not drain normally |
| Phenylketonuria | an autosomal recessive genetic disorder in which the body cannot metabolize the amino acid phenylalanine |
| Galactosemia | a genetic disease in which an enzyme needed to metabolize galactose is deficient or absent |
| Duchenne muscular dystrophy | A human genetic disease caused by a sex-linked recessive allele; characterized by progressive weakening and a loss of muscle tissue. |
| Hemophilia | sex-linked recessive disorder defined by the absence of one or more proteins required for blood clotting |
| Turner's syndrome | genetic disorder in which affected women have only one X chromosome (non-disjunction), causing developmental abnormalities and infertility. |
| Down syndrome | abnormal number of chromosomes (non disjunction) in somatic cells, a congenital disorder caused by having an extra 21st chromosome |
| Klinefelter's syndrome | a chromosomal trisomy (non-disjunction)in which males have an extra X chromosome resulting in an XXy condition; affected individuals typically have reduced fertility |
| Daltonism/Colorblindness | a sex-linked recessive disorder inherited producing colorblindness |
| Non-disjunction | meiosis in which there is a failure of paired homologous chromosomes to separate |
| Tay-Sachs disease | autosomal recessive inherited, progressive disease marked by degeneration of brain tissue |
| Edward's syndrome | The cause(s) are/is Trisomy 18 (non-disjunction), an extra part or complete 18th chromosome. |
| Patau syndrome | The cause(s) are/is This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D) |
| Jacob's syndrome (XYY) | The cause(s) are/is A human male has an extra male (Y) chromosome The symptom(s) are/is Increased growth velocity from early childhood |
| Color blindness | The cause(s) are/is The genes that produce photopigments are carried on the X chromosome; if some of these genes are missing or damaged, color blindness will be expressed in males with a higher probability than in females because males only have one X chromosome |
| Turners Syndrome | Chromosomal nondisjunction (X) Effect on DNA or chromosome: Only 1 X chromosome |
| karyotype | the number and visual appearance of the chromosomes in the cell nuclei of an organism or species. |
| autosomal recessive inheritance | either sex can get disease; heterozygotes of both sexes are normal-heterozygote parents have disease Kidds in ration 1:4 kids; typically "loss of function" mutations |
| Xy | male genotype |
| XX | female genotype |
| heterozygous | gene pair is made up of one dominant allele and one recessive allele (Bb) |
| homozygous | gene pair is made up of 2 dominant alleles (BB) OR 2 recessive alleles (bb) |
| dominant | allele denoted by a capital letter (B) |
| recessive | allele denoted by a lowercase letter (b) |
| autosomal recessive disorder | two copies of abnormal gene must be present in order for the disease of trait to develop |
| autosomal dominant disorder | only 1 copy of gene is needed for the disorder to develop |
| trisomies | 3 copies of a chromosome |
| karyotype | individual's complete set of chromosomes |
| translocation | type of chromosomal abnormality in which a chromosome breaks and a portion of it reattaches to a different chromosomal location. |
