Unit 3: Cytogenetics - Chromosome Abnormalities & Disorders

These flashcards cover vocabulary related to cytogenetics, chromosome abnormalities, and chromosomal disorders.

Autosomal chromosomes

Chromosomes that are not sex chromosomes; humans have 22 pairs.

Sex chromosomes

Chromosomes that determine an individual's sex; typically, XX for females and XY for males.

Chromosome segregation

The process during cell division where chromosomes are distributed into daughter cells.

Numerical abnormalities

Changes in the number of chromosomes, such as aneuploidy (e.g., trisomy or monosomy).

Structural abnormalities

Changes in the structure of chromosomes, such as deletions, duplications, or inversions.

Mosaicism

A condition where an individual has two or more genetically different cell lines derived from a single zygote.

Triploidy

A chromosomal abnormality where a cell has three sets of chromosomes (69 total in humans).

Klinefelter syndrome

A genetic condition in males caused by the presence of an extra X chromosome (47, XXY), leading to developmental issues.

Turner syndrome

A chromosomal disorder in females characterized by the absence of one X chromosome (45, X), resulting in various physical and developmental issues.

Nondisjunction

The failure of homologous chromosomes or sister chromatids to separate properly during cell division, leading to aneuploidy.

Gametogenesis

The process by which gametes (sperms and eggs) are produced from germ cells.

Haplo-insufficiency

A condition where having only one functional copy of a gene is not sufficient for normal function, often leading to abnormal phenotypes.

Dosage effect

An abnormal phenotype arising from an imbalance in gene dosage, such as an extra chromosome.