Diploid & Haploid Cells, Karyotyping, and Mutations

Vocabulary flashcards covering the concepts of karyotyping, diploid and haploid human cells, gametogenesis, and chromosomal mutations (structural and numerical abnormalities).

Karyotyping

The process of chromosome arrangement according to chromosome size, centromere position, and chromosome banding patterns.

Metaphase of mitosis

The phase of cell division optimal for karyotyping because chromosomes are at their most visible, being the shortest and thickest.

RBCs (Red Blood Cells)

Anucleated cells that do not possess a nucleus, and therefore lack the chromosomes needed for karyotyping.

Diploid cell

A cell that has two sets ($2n$) of chromosomes, totaling 44 autosomes and 1 pair of gonosomes (XX or XY).

Haploid cell

A cell (such as a gamete) that has one set ($n$) of chromosomes, totaling 22 autosomes and 1 gonosome (X or Y).

Autosomes

Chromosomes that are identical in structure between males and females, comprising 22 pairs (44 individual chromosomes) in human diploid cells and 22 individual chromosomes in haploid cells.

Gonosomes

Sex chromosomes that determine gender, consisting of 1 pair in a diploid cell (XX in females or XY in males) and 1 single chromosome (X or Y) in a haploid gamete.

Aneuploidy

A numerical chromosomal mutation defined as the gain or loss of 1 or 2 chromosomes.

Polyploidy

A numerical chromosomal mutation defined as having more than two sets of chromosomes.

Turner Syndrome (Monosomy X)

A gonosomal numerical chromosomal abnormality occurring in females with the chromosomal formula $2n - 1 = 45, \text{X}$.

Familial Down Synd. (Trisomy 21)

An autosomal numerical chromosomal abnormality characterized by the chromosomal formula $2n + 1 = 47, \text{XX}, +21$ in females or $2n + 1 = 47, \text{XY}, +21$ in males.

Kleinfelter Synd. (Mostly XXY)

A gonosomal numerical chromosomal abnormality occurring in males with the chromosomal formula $2n + 1 = 47, \text{XXY}$.

Chromosomal structural mutations

Mutations that alter chromosome structure, classified into four types: deletion, duplication, inversion, and translocation.

Gametogenesis

The process through which a somatic cell containing 22 pairs of autosomes and 1 pair of gonosomes divides to produce haploid gametes (resulting in 1 kind of gamete in females and 2 kinds in males).