Principles of Genetics - Chromosomal Alterations

This set of flashcards covers key concepts related to chromosomal alterations from the Principles of Genetics course.

What is the definition of nondisjunction in cell division?

Nondisjunction is the failure of chromosomes and sister chromatids to properly separate during cell division.

What are the main results of nondisjunction?

Nondisjunction results in abnormalities in chromosome number, such as aneuploidy.

What defines euploid and aneuploid cells?

Euploid cells have a complete set of chromosomes (e.g., n, 2n, 3n), while aneuploid cells have an abnormal number of chromosomes.

What are trisomy and monosomy in the context of chromosomes?

Trisomy is the condition of having an extra chromosome (2n+1), while monosomy is the condition of having one less chromosome (2n-1).

Which autosomal trisomies are observed in newborn infants?

Only autosomal trisomies of chromosomes 13, 18, and 21 are commonly observed.

What is a karyotype?

A karyotype is an organized visual display of chromosomes that can be used to identify abnormalities in chromosome number or structure.

How are chromosomes organized in the nucleus during interphase?

Chromosomes are partitioned into specific regions called chromosome territories during interphase.

What is the significance of the Down syndrome critical region (DSCR)?

The DSCR is correlated with the majority of Down syndrome symptoms, containing candidate genes like DYRK and DSCAM.

What are the types of chromosome shapes?

Chromosomes can be classified as metacentric, submetacentric, acrocentric, or telocentric based on the position of the centromere.

What does FISH stand for in cytogenetics?

FISH stands for Fluorescent In Situ Hybridization, a technique used to detect specific DNA sequences on chromosomes.