Karyotype and Genetics Terminology

Flashcards covering key terms related to karyotype and genetics for exam preparation.

Karyotype

The arrangement of the full set of chromosomes in an individual, often used to visualize chromosomal abnormalities.

Diploid

Cells that contain two sets of chromosomes, typically one set from each parent, denoted as 2n.

Haploid

Cells that contain only one set of chromosomes, denoted as n, occurring after meiosis.

Homologous chromosomes

Chromosomes that are similar in size, shape, and gene content, containing identical gene sets at matching positions.

Allele

Alternative forms of a gene that exist at a specific locus on a chromosome.

Genotype

The genetic makeup of an organism, represented by the arrangement of alleles.

Phenotype

The observable physical or chemical characteristics of an organism, resulting from the interaction of its genotype and environment.

Dominant allele

An allele that expresses its phenotype even if only one copy is present, typically represented by a capital letter.

Recessive allele

An allele that only expresses its phenotype when two copies are present, usually represented by a lowercase letter.

Sex chromosomes

Chromosomes that determine the sexual characteristics of an organism, typically X and Y in humans.

Androgen

A hormone that regulates male characteristics, including development and maintenance of male features.

SRY gene

The male-determining gene located on the Y chromosome that triggers male development.

Karyotype classification

The classification of chromosomes based on their length and position of the centromere, categorized into groups A-G.

Fertilization

The process in which sperm and egg unite to form a zygote, resulting in genetic contribution from both parents.

Hermaphroditism

A condition where an individual possesses both male and female reproductive organs.

Gamete

A haploid reproductive cell (sperm or egg) that merges during fertilization.

Homozygous

An organism with two identical alleles for a specific gene.

Heterozygous

An organism with two different alleles for a specific gene.

Hemizygous

An organism with only one allele for a gene, typically referring to genes on the X or Y chromosome in males.

Meiosis

A type of cell division that results in four haploid cells, essential for sexual reproduction.

Chromosomal sex determination

The process by which an organism's sex is determined at the chromosomal level, primarily in humans through XX or XY.