Atypical Chromosomes and Karyotypes

Vocabulary flashcards highlighting key terms and concepts related to atypical chromosomes and chromosomal abnormalities.

Atypical Chromosomes

Chromosomes that have abnormalities in number or structure.

Karyotype

A diagnostic tool that displays chromosomes by size and structure, used to detect chromosomal anomalies.

Aneuploidy

The condition of having an abnormal number of chromosomes in a cell, either extra or missing.

Euploid

Cells with a normal number of chromosomes.

Polyploidy

A condition in which an organism has extra sets of chromosomes.

Trisomy

A genetic condition characterized by the presence of an extra chromosome.

Monosomy

A genetic condition where one chromosome is absent.

Translocation

A chromosomal abnormality in which a segment of one chromosome is transferred to another chromosome.

Nondisjunction

Failure of chromosomes to separate properly during cell division, leading to gametes with an abnormal number of chromosomes.

Meiosis I

The first division in meiosis where nondisjunction can occur, resulting in gametes with extra or missing chromosomes.

Meiosis II

The second division in meiosis, which can also lead to nondisjunction and abnormalities in chromosome number.

Chromosomal Mutation

A significant alteration in chromosome structure or number that can be observed through a microscope.

Heterochromatin

The part of a chromosome that is darkly staining and typically found in areas like the ends and centromeres.

Euchromatin

The lighter-staining part of a chromosome that contains most protein-encoding genes.

Genome Editing

A technique that alters the genes within an organism's cells, potentially used to address chromosomal abnormalities.

Idogram

A graphic representation of chromosomes, displaying specific segments and bands.

Cell-Free Fetal DNA (cfDNA) testing

A noninvasive prenatal test that analyzes DNA fragments circulating in the mother’s blood.

Spontaneous Abortions

Natural termination of a pregnancy, often caused by chromosomal abnormalities.