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These flashcards cover key terms and concepts related to genomes, chromosomes, chromosomal abnormalities, and genetic conditions.
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Genome
All the genes an organism can possess.
Chromosome
A collection of genes organized onto a single piece of DNA.
Prokaryotic DNA Packaging
Prokaryotic DNA is packaged as a circular chromosome.
Eukaryotic Genomes
Almost all eukaryotes have genomes split onto more than one chromosome.
Relationship between Chromosome Number and Genome Size
There is virtually no relationship between chromosome number and genome size.
States of DNA Packaging
Metaphase chromosomes and interphase chromosomes are the two states of DNA packaging.
Centromere
A constricted region where spindle fibers attach during mitosis.
Cohesion
A protein that holds the sister chromatids together.
Telomeres
Protective caps that prevent unraveling and preserve the integrity of linear chromosomes.
Aneuploidy
Presence of extra or missing chromosomes.
Trisomy 21
Down’s syndrome, which is the presence of an extra 21st chromosome.
Klinefelter’s Syndrome
A condition in men who have an extra X chromosome (XXY).
Turner’s Syndrome
The only tolerated missing sex chromosome, characterized by having one X chromosome.
Cri-du-chat Syndrome
A genetic disorder caused by a deletion on the p arm of chromosome 5, leading to abnormal larynx development.
Intra-chromosomal Rearrangement
A structural change where a segment of a chromosome breaks and rearranges within the same chromosome.
Polyploidy
Condition where an organism has more than two sets of chromosomes.
Autopolyploid
Doubling of the existing diploid genome.
Allopolyploid
Chromosome sets come from different but closely related species.
Copy Number Variants
A type of genetic alteration where sections of the genome are deleted or duplicated.
Reciprocal Translocation
Rearrangement that results from a single break in each of two chromosomes.
Robertsonian Translocation
Whole arm exchanges between acrocentric chromosomes.
Effects of Chromosomal Inversion
Inversion involves rearranged regions on a chromosome, affecting meiosis outcomes.