8A_Chromosomal Inheritance & Disorders

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aneuploid

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individual with an error in chromosome number; includes chromosome segment deletions and duplications

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aneuploidy

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A chromosomal aberration in which one or more chromosomes are present in extra copies or are deficient in number.

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autosome

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any of the non-sex chromosomes

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Barr body

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A dense body formed from a deactivated X chromosome.

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map unit

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also called centimorgan (cM) relative distance that corresponds to a 0.01 recombination frequency

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Chromosomal Theory of Inheritance

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theory proposing that chromosomes are the genes' vehicles and that their behavior during meiosis is the physical basis of the inheritance patterns that Mendel observed

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chromosome inversion

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detachment, 180° rotation, and chromosome arm reinsertion

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cri du chat syndrome

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A deletion of the short arm of chromosome 5 associated with an array of congenital malformations, the most characteristic of which is an infant cry that resembles a meowing cat.

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Down Syndrome

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Trisomy 21: a condition of mild to severe intellectual disability and associated physical disorders caused by an extra copy of chromosome 21

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genomic imprinting

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occurs when genes have differing effects depending on whether they are inherited from the mother or the father; methylation of C nucleotides silences genes