Lecture on Genomes, Chromosomes, and Genetic Conditions

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These flashcards cover key terms and concepts related to genomes, chromosomes, chromosomal abnormalities, and genetic conditions.

Last updated 1:50 PM on 4/23/26
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22 Terms

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Genome

All the genes an organism can possess.

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Chromosome

A collection of genes organized onto a single piece of DNA.

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Prokaryotic DNA Packaging

Prokaryotic DNA is packaged as a circular chromosome.

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Eukaryotic Genomes

Almost all eukaryotes have genomes split onto more than one chromosome.

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Relationship between Chromosome Number and Genome Size

There is virtually no relationship between chromosome number and genome size.

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States of DNA Packaging

Metaphase chromosomes and interphase chromosomes are the two states of DNA packaging.

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Centromere

A constricted region where spindle fibers attach during mitosis.

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Cohesion

A protein that holds the sister chromatids together.

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Telomeres

Protective caps that prevent unraveling and preserve the integrity of linear chromosomes.

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Aneuploidy

Presence of extra or missing chromosomes.

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Trisomy 21

Down’s syndrome, which is the presence of an extra 21st chromosome.

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Klinefelter’s Syndrome

A condition in men who have an extra X chromosome (XXY).

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Turner’s Syndrome

The only tolerated missing sex chromosome, characterized by having one X chromosome.

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Cri-du-chat Syndrome

A genetic disorder caused by a deletion on the p arm of chromosome 5, leading to abnormal larynx development.

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Intra-chromosomal Rearrangement

A structural change where a segment of a chromosome breaks and rearranges within the same chromosome.

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Polyploidy

Condition where an organism has more than two sets of chromosomes.

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Autopolyploid

Doubling of the existing diploid genome.

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Allopolyploid

Chromosome sets come from different but closely related species.

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Copy Number Variants

A type of genetic alteration where sections of the genome are deleted or duplicated.

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Reciprocal Translocation

Rearrangement that results from a single break in each of two chromosomes.

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Robertsonian Translocation

Whole arm exchanges between acrocentric chromosomes.

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Effects of Chromosomal Inversion

Inversion involves rearranged regions on a chromosome, affecting meiosis outcomes.