Large-Scale Chromosome Issues

Vocabulary flashcards covering key concepts related to large-scale chromosome issues and genetic alterations.

Aneuploidy

Refers to the presence of an abnormal number of chromosomes in a cell, resulting from nondisjunction during cell division.

Karyotype

A complete set of chromosomes in an individual, arranged in pairs, allowing for observation of chromosome number and integrity.

Inversion

A chromosomal rearrangement where a segment of a chromosome is reversed end to end.

Translocation

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

Nonreciprocal Translocation

A segment from one chromosome is transferred to a nonhomologous chromosome.

Reciprocal Translocation

Segments from two nonhomologous chromosomes exchange places.

Trisomy

An individual has three copies of a chromosome instead of two, e.g., trisomy 21 (Down syndrome).

Monosomy

Loss of one chromosome, e.g., Turner syndrome with 45,X.

Deletions

Loss of a chromosome segment, affecting multiple genes within the deleted region.

Polyploidy

The presence of more than two complete sets of chromosomes.

FISH

Fluorescent In Situ Hybridization, a technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes.

Paracentric Inversion

Involves chromosome segments not extending across the centromere, affecting only the segments outside the centromere.

Pericentric Inversion

The centromere is part of the inverted segment, changing the lengths of the two arms of the chromosome.

Chromosome Rearrangement

Structural changes to chromosomes that may involve deletion, duplication, inversion, or translocation.

Nondisjunction

An error in cell division where homologous chromosomes or sister chromatids fail to separate properly, leading to aneuploidy.

Chromosomal Anomalies

Defects in chromosome structure that can disrupt expected genetic outcomes in offspring.

Gene Mapping

Techniques used to determine the arrangement of genes on chromosomes, often revealing chromosomal rearrangements.

Haplotypes

A group of genes within an organism that are inherited together from a single parent.

PCR

Polymerase Chain Reaction, a technique used to amplify target DNA sequences.

Gel electrophoresis

A method for separating DNA fragments based on size.