Chromosome Mutations

These flashcards cover key vocabulary terms related to chromosome mutations and aneuploidy as discussed in the lecture.

Aneuploidy

Variations in chromosome number where an organism gains or loses one or more chromosomes.

Monosomy

Loss of a single chromosome, where only one member of a homologous pair remains (2n - 1).

Trisomy

Gain of a single chromosome resulting in three copies of that chromosome (2n + 1).

Polyploidy

Presence of more than two sets of chromosomes in an organism.

Autopolyploidy

Polyploid condition involving multiple sets of chromosomes derived from the same species.

Allopolyploidy

Polyploid condition that arises from the combination of chromosome sets from different species as a result of hybridization.

Endopolyploidy

Condition where only certain cells in a diploid organism are polyploid.

Deletions

Missing regions of a chromosome due to breaks that result in the loss of genetic material.

Duplications

Repeated segments of a chromosome; a single locus is present more than once in the genome.

Inversions

Rearrangement of a chromosome segment that flips 180 degrees within the chromosome.

Translocations

Movement of a chromosome segment to a new location in the genome, which may involve exchanges between nonhomologous chromosomes.

Cri du chat Syndrome

Genetic disorder caused by a deletion of a portion of chromosome 5; infants exhibit malformations and a distinctive cry.

Fragile-X Syndrome

Inherited form of mental retardation caused by a trinucleotide repeat expansion on the X chromosome.

Non-Disjunction

Failure of homologous chromosomes or sister chromatids to separate properly during meiosis.

Haploinsufficiency

Condition where one copy of a gene is not sufficient for normal function, often leading to disease.

Down Syndrome

Result of trisomy of chromosome 21, characterized by specific phenotypes and developmental challenges.

Patau Syndrome

Genetic disorder caused by trisomy of chromosome 13, manifesting severe malformations.

Edwards Syndrome

Genetic disorder caused by trisomy of chromosome 18, also characterized by severe developmental issues.

Chronic Myelogenous Leukemia (CML)

A type of cancer characterized by specific genomic alterations including reciprocal translocation between BCR and ABL.