Robertsonian Translocation and Chromosomal Mutations

These flashcards cover key terms and concepts related to Robertsonian translocation and chromosomal mutations based on the lecture notes provided.

Robertsonian translocation

A structural chromosomal mutation occurring between two acrocentric chromosomes where the long arms are fused and the short arms are lost.

Incidence of Robertsonian translocation

The occurrence rate is approximately 1 in 1000 births.

Meiosis

The process of cell division that results in four haploid gametes from a diploid cell.

Monosomy

A chromosomal abnormality involving the loss of a chromosome, resulting in a total of 45 chromosomes.

Trisomy

A chromosomal abnormality involving the presence of an extra chromosome, resulting in a total of 47 chromosomes.

Aneuploidy

A condition involving an abnormal number of chromosomes.

Chromosomal mutations

Changes in the structure or number of chromosomes that can affect genetic information.

X inactivation

A process that balances gene expression between males and females by inactivating one of the X chromosomes in females.

Phenotype

The observable characteristics of an organism resulting from the interaction of its genotype with the environment.

Nondisjunction

The failure of chromosomes to segregate properly during meiosis, which can lead to aneuploidies.

Down syndrome

A genetic disorder caused by the presence of an extra chromosome 21.

Edward syndrome

A genetic disorder caused by the presence of an extra chromosome 18.