2.2 Genetics and Chromosomal Abnormalities

Chromosomes carrying genes from both parents, sharing the same structural features and genes.

A cell with two sets of chromosomes (2n), one from each parent.

A cell with an abnormal number of chromosomes, not a multiple of 23.

A cell with only one copy of a particular chromosome instead of two.

A cell with three copies of a particular chromosome.

A cell with a complete extra set of chromosomes (3n).

A change in chromosome structure where a segment is lost.

A change in chromosome structure where a segment is duplicated.

A characteristic or trait that is only expressed in one gender, often due to differences in anatomy.

A trait that appears more frequently in one sex than the other, but it is not limited to one sex.

The process of finding the exact location of a gene on a chromosome.

DNA extracted from reproductive cells (sperm or egg) that is incorporated into the DNA of all cells in an offspring's body.

The process of using genetic information to personalize medical treatments and diagnoses based on a patient's unique genetic makeup.

A naturally occurring variation in a person's DNA sequence that can affect drug metabolism.

The process of breaking down drugs within the body to be eliminated.

The enzyme Cytochrome P450, particularly CYP2D6, influences the metabolism of many drugs.

The probability that a child will inherit a genetic disease from their parents.

The percentage of individuals with a specific genotype who actually express the corresponding phenotype.

A situation where individuals with a disease-causing gene do not exhibit any symptoms, even though they carry the genetic mutation.

A situation where symptoms of a genetic disorder only appear later in life, often after the age of 40.

The marriage between two closely related individuals.

A pattern of inheritance where a single copy of the disease-causing allele is sufficient to cause the disease.

A pattern of inheritance where two copies of the disease-causing allele are required to cause the disease.

A genetic disorder that occurs more frequently in males than females.

The process by which a male's sex is determined by the presence of a Y chromosome.

A genetic disorder characterized by a defective chloride transporter, resulting in thick mucus secretions in the lungs and other organs.

A genetic disorder caused by a mutation on the X chromosome, resulting in progressive muscle weakness and degeneration.

A genetic disorder characterized by a fragile site on the X chromosome, leading to intellectual disability.

The probability of a child inheriting a specific genetic trait from their parents.

A region on the Y chromosome responsible for determining male sex.

The process by which a new mutation occurs in a gene, leading to a disease.

A chromosomal abnormality where a segment of a chromosome breaks, flips, and re-inserts itself back into the original location, but in reverse order. The total amount of genetic material remains the same, but the order of genes is altered.

A chromosomal abnormality where a segment of one chromosome breaks off and attaches to a different, non-homologous chromosome. This exchange of genetic material can be reciprocal, meaning both chromosomes exchange segments, or non-reciprocal, where only one chromosome gains or loses material.

A specific type of translocation where the long arms of two non-homologous chromosomes fuse at the centromere, creating a single large chromosome.

Regions on chromosomes that are prone to breakage or gaps. Most fragile sites are not associated with disease, but some can be linked to genetic disorders.

A genetic disorder caused by the presence of an extra copy of chromosome 21. It is characterized by distinctive facial features, intellectual disability, and an increased risk of heart defects and Alzheimer's disease.

A genetic disorder caused by the absence of one of the two X chromosomes in females. It is characterized by short stature, webbed neck, and a wide variety of other physical and medical problems.

A genetic disorder caused by the presence of an extra X chromosome in males. It is characterized by tall stature, small testes, and a higher risk of learning disabilities.

The specific location that a gene occupies on a chromosome.

Different forms of a gene that can occupy the same locus. Alleles are responsible for variations in traits.

The genetic makeup of an individual for a particular gene, referring to the specific alleles they possess.

The observable characteristics of an individual, determined by both their genotype and the environment.

A gene that masks the effect of another gene when both are present in a heterozygous individual. The dominant allele is expressed even when only one copy is present.

A gene that is only expressed when two copies are present in a homozygous individual. The recessive allele is masked by the dominant allele in a heterozygous individual.

An individual who carries one copy of a disease-causing allele but does not exhibit the disease phenotype. They can still pass the recessive allele to their offspring.