Chromosomal Alterations, Cellular Adaptation, and Cellular Injury Vocabulary

Comprehensive vocabulary flashcards covering chromosomal alterations, trisomy and monosomy syndromes, types of cellular adaptation, and mechanisms of cellular injury based on lecture notes.

Euploid

A state where a cell has the expected, normal number of chromosomes, such as $23$ or $46$.

Autosomes

The first $22$ pairs of the $23$ total chromosome pairs in a human cell.

Sex Chromosomes

The chromosomes that determine gender, represented as XX for females and XY for males.

Karyotype

A visual picture or standard written notation (such as $46, XX$ or $46, XY$) displaying an individual's complete set of chromosomes.

Aneuploidy

A condition in which a cell does not have the expected $23$ chromosomes or a multiple of $23$, failing to equal $46$ chromosomes.

Trisomy

A type of aneuploidy where a cell possesses an extra copy of a specific chromosome.

Monosomy

A type of aneuploidy where a cell is missing one chromosome from a pair, frequently resulting in first-trimester miscarriage.

Nondisjunction

The failure of chromosome pairs to divide as expected during cell division in meiosis I or meiosis II.

Advanced Maternal Age

Maternal age over $35$ years old, which increases the likelihood of chromosomal nondisjunction and trisomy conditions.

Phenotype

The observable physical characteristics or features seen with the eyes.

Genotype

The internal genetic composition or chromosomal structure of an individual.

Trisomy 21

Also known as Down syndrome, a condition denoted as $47, XY, +21$ or $47, XX, +21$, characterized by a flattened face, low-set ears, space between the big toe and other toes, a single palmar crease, and potential congenital heart defects.

Trisomy X

A chromosomal condition in females denoted as $47, XXX$, presenting with a normal female phenotype, unaffected fertility, and increased height secondary to extra estrogen.

Klinefelter Syndrome

A condition in males featuring an extra X chromosome ($47, XXY$), characterized by an infertility rate of $99 proposal$ to $100 proposal$, altered secondary sex characteristics, low testosterone, gynecomastia, and altered torso curvature.

Gynecomastia

The development of extra breast tissue in males.

Turner Syndrome

A monosomy X condition denoted as $45, X$, characterized by a broad or webbed neck, shorter stature, absence of an adolescent growth spurt, brown spots on the trunk, and decreased bone strength leading to risks like osteoporosis, kyphosis, or scoliosis.

Nonsense Mutation

A type of genetic mutation that terminates the function of the produced protein.

Cellular Adaptation

A reversible response involving structural or functional modifications made by cells to accommodate normal and abnormal demands to maintain a steady state.

Atrophy

A decrease in cell substance resulting in cell shrinkage, which can stem from decreased workload, diminished blood supply, or inadequate nutrition.

Hypertrophy

An increase in cell size or organ size resulting from increased mechanical demand or stimulation by hormones.

Hyperplasia

An increase in the number of cells within a tissue or organ resulting from an increased rate of cell division.

Dysplasia

Deranged cell growth producing cells that vary in size, shape, and appearance; it is non-cancerous but can progress to cancer if the initiating stimulus is not removed.

Metaplasia

The reversible conversion of one mature cell type into another mature cell type for protective purposes in response to tissue damage or chronic irritation.

Hypoxia

A condition characterized by a lack of sufficient oxygen within cells, preventing the generation of ATP and initiating anaerobic metabolism.

Ischemia

Insufficient blood flow to cells or tissues, serving as the most common cause of cellular hypoxia.

Anoxia

A total lack of oxygen resulting from sudden blockage of blood flow or prolonged ischemia, which can rapidly progress to tissue or organ death.